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Gene: Scarb2 MGI:1196458

Gene Summary

Name:

scavenger receptor class B, member 2

Synonyms:

LIMP II, LIMP-2, Cd36l2, 9330185J12Rik, LGP85

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased leukocyte cell number	Scarb2^em2(IMPC)Tcp	HOM	Early adult	5.31×10^-09
decreased monocyte cell number	Scarb2^em2(IMPC)Tcp	HOM	Early adult	5.99×10^-05
enlarged kidney	Scarb2^em2(IMPC)Tcp	HOM	Early adult	0.00
prolonged RR interval	Scarb2^em2(IMPC)Tcp	HOM	Early adult	2.11×10^-05
decreased mean corpuscular volume	Scarb2^em2(IMPC)Tcp	HOM	Early adult	4.20×10^-05
abnormal QT variability	Scarb2^em2(IMPC)Tcp	HOM	Early adult	8.13×10^-05
increased heart rate variability	Scarb2^em2(IMPC)Tcp	HOM	Early adult	1.78×10^-07
increased bone mineral content	Scarb2^em2(IMPC)Tcp	HOM	Early adult	5.82×10^-07
abnormal sinus arrhythmia	Scarb2^em2(IMPC)Tcp	HOM	Early adult	6.21×10^-06
cardiovascular system phenotype	Scarb2^em2(IMPC)Tcp	HOM	Early adult	4.54×10^-08
increased circulating calcium level	Scarb2^em2(IMPC)Tcp	HOM	Early adult	5.06×10^-05
increased blood urea nitrogen level	Scarb2^em2(IMPC)Tcp	HOM	Early adult	4.86×10^-05
decreased total body fat amount	Scarb2^em2(IMPC)Tcp	HOM	Early adult	2.19×10^-16
preweaning lethality, incomplete penetrance	Scarb2^em2(IMPC)Tcp	HOM	Early adult	0.00
thrombocytosis	Scarb2^em2(IMPC)Tcp	HOM	Early adult	3.24×10^-07
enlarged lymph nodes	Scarb2^em2(IMPC)Tcp	HOM	Early adult	0.00
increased lean body mass	Scarb2^em2(IMPC)Tcp	HOM	Early adult	7.33×10^-07
increased neutrophil cell number	Scarb2^em2(IMPC)Tcp	HOM	Early adult	1.21×10^-05
increased lymphocyte cell number	Scarb2^em2(IMPC)Tcp	HOM	Early adult	1.34×10^-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Histopathology

Images

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Scarb2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Scarb2 (3 diseases)
Human diseases predicted to be associated with Scarb2 (2040 diseases)

The table below shows human diseases associated to Scarb2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus	ORPHA:308
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephropathy, Cerebellar atrophy, Focal segmental glomerulosclerosis, Intention tr...	OMIM:254900
Gaucher Disease Type 1	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hematuria, Pancytopeni...	ORPHA:77259

The table below shows human diseases predicted to be associated to Scarb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Stenosis of the external auditory canal, Abnormal ...	ORPHA:107
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Sensorineural hearing impairment, Bilateral sensorineural hear...	OMIM:620536
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
Familial Infantile Bilateral Striatal Necrosis	Atrophy/Degeneration involving the caudate nucleus, Babinski sign, Hypertonia, Spasticity, Astroc...	ORPHA:225154
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Progressive Non-Fluent Aphasia	Frontotemporal cerebral atrophy, Senile plaques, Apraxia, Abnormality of extrapyramidal motor fun...	ORPHA:100070
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope...	OMIM:615285
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis	OMIM:300857
Spastic Paraplegia-Nephritis-Deafness Syndrome	Sensorineural hearing impairment, Nephropathy, Proteinuria	ORPHA:2820
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Rhabdoid Tumor	Renal neoplasm, Anemia, Hematuria, Lymphadenopathy, Hypertension, Internal hemorrhage, Thrombocyt...	ORPHA:69077
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Enlarged me...	OMIM:209950
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Sensorineural hearing impairment, Abnormality of the uppe...	ORPHA:2838
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg...	OMIM:226990
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Ring Chromosome 8 Syndrome	Hydronephrosis, Round ear, Abnormality of the ureter	ORPHA:1450
Intellectual Developmental Disorder, Autosomal Dominant 42	Sensorineural hearing impairment, Limb dystonia, Dysphagia, Motor tics, Aggressive behavior, EEG ...	OMIM:616973
Sporadic Creutzfeldt-Jakob Disease	Cerebral atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in c...	ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Babinski sign, Neuronal loss in central nervous system, Astrocytosis, Cerebral cortical atrophy, ...	OMIM:600795
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
East Syndrome	Renal salt wasting, Polydipsia, Peripheral hypomyelination, Sensorineural hearing impairment, Per...	ORPHA:199343
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech	OMIM:160120
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Hearing impairment, Feeding difficulties, Renal ...	OMIM:616733
Autosomal Recessive Spastic Paraplegia Type 27	Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Spastic/hyperac...	ORPHA:101007
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Sensorineural hearing impairment, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chroni...	OMIM:614455
Lower Limb Malformation-Hypospadias Syndrome	Macrotia, Hypospadias, Low-set, posteriorly rotated ears, Abnormality of the ureter	ORPHA:2487
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia,...	ORPHA:282166
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Essential Thrombocythemia	Acute leukemia, Transient ischemic attack, Leukocytosis, Abnormality of thrombocytes, Abnormal pl...	ORPHA:3318
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki...	OMIM:617610
46,Xy Sex Reversal 4	Recurrent otitis media, Sensorineural hearing impairment, Microtia, Ureteropelvic junction obstru...	OMIM:154230
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Sensorineural hearing impairment, Hearing impairment, Onion bulb formation, Segmen...	OMIM:311070
Thrombocythemia 3	Ischemic stroke, Thrombocytosis	OMIM:614521
Hematuria, Benign Familial, 2	Microscopic hematuria, Sensorineural hearing impairment, Proteinuria, Abnormal glomerular basemen...	OMIM:620320
Cednik Syndrome	Optic atrophy, Sensorineural hearing impairment, Polymicrogyria, Nephrotic syndrome, Macrotia, Pr...	ORPHA:66631
Gabriele-De Vries Syndrome	Tremor, Low-set ears, Ureteropelvic junction obstruction, Hydronephrosis, Posteriorly rotated ear...	OMIM:617557
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Elbow flexi...	OMIM:604416
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Poor suck, Hearing impairment, Cerebral cortical atrophy, Hydronephrosis, ...	ORPHA:85285
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Urinary bladder sphincter ...	ORPHA:320401
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat...	ORPHA:18
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Enlarged tonsils, Delayed femoral head ossification, Leuk...	ORPHA:168621
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Dysphagia, Axonal...	OMIM:607736
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit...	OMIM:616515
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Pulmonary arterial hypertensio...	OMIM:613845
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk...	ORPHA:824
Oligomeganephronia	Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a...	ORPHA:2260
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Polydipsia, Peripheral hypomyelination, Chronic axonal neuropathy, ...	OMIM:612780
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses	OMIM:601071
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Cellulitis, Leukopenia, Hepato...	OMIM:618986
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased sensory nerve conduction velocity, Tremor, Hearing impairment, Decreased...	OMIM:609260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Hearing impairment, Decreased number of peripheral myelinated nerve f...	OMIM:118220
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia...	ORPHA:71277
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased...	OMIM:616689
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Spinocerebellar Ataxia 43	Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity, Ataxia	OMIM:617018
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Microtia, Vesicoureteral reflux, Ureteropelvic j...	ORPHA:2438
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Demyelinating motor neuropathy, Gastroesophageal reflux, Sensorineural hearing impairment, Demyel...	OMIM:617519
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial...	OMIM:601596
Glut1 Deficiency Syndrome 1	Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo...	OMIM:606777
Galloway-Mowat Syndrome 8	Hematuria, Brain atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hearing impairm...	OMIM:618349
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Urinary incontinence, CNS demyelination, Dysphagia, Peripher...	OMIM:249900
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Upper limb postural tr...	ORPHA:98769
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Anemia, Bone cyst, Hypercalcemia, Proteinuria, Renal insufficiency	ORPHA:2668
Renal Hypoplasia	Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Recurrent urinary tract ...	ORPHA:93101
Macdermot-Winter Syndrome	Macrotia, Hydronephrosis, Posteriorly rotated ears	OMIM:247990
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Hepatomegaly, Anemia, Thrombocytopenia, Hypercalcemia, Renal insufficiency	ORPHA:2123
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Inappropriate behavior, Cerebral atrophy, Caudate atrophy, Urinary incontinence, Abnormal upper m...	OMIM:221770
Krabbe Disease	Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Hear...	OMIM:245200
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye...	OMIM:601382
Charcot-Marie-Tooth Disease, Type 4K	Sensorineural hearing impairment, Hearing impairment, Dystonia, Peripheral demyelination, Axonal ...	OMIM:616684
Porphyria, Acute Hepatic	Paralysis, Failure to thrive, Hemolytic anemia, Respiratory paralysis	OMIM:612740
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Cerebral atrophy, Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic la...	OMIM:105500
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol...	ORPHA:232
Senior-Loken Syndrome 4	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Reduced beta-hexosamin...	ORPHA:309169
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Anemia, Hematuria, Hemolytic-...	OMIM:612925
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Sensorineural hearing impairment, Abnormal autonomic nervous system p...	OMIM:598500
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase...	OMIM:612926
Nephronophthisis-Like Nephropathy 2	Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney...	OMIM:619468
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Gastroesophageal reflux, Dilatation of renal calices, Pelvic kidney, Sensorineural hearing impair...	ORPHA:466943
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Diarrhea, Proximal tubulopathy, Hearing impairment, Vomiting, Type I diabetes mellitus	OMIM:560000
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Abnormal dental enamel morphology, Hypertension, Episodic hemolytic anemia, Incr...	ORPHA:251004
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Focal Cortical Dysplasia, Type Ii	Astrocytosis, Hemiparesis	OMIM:607341
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased number of peripheral myelinated nerve fibers, Dysphagia, Clusters of axonal reg...	OMIM:607734
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Sensori...	ORPHA:2322
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase...	OMIM:612924
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Sensorineural hearing impairment, Hydronephrosis, Hydroureter	OMIM:264140
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra...	OMIM:614561
Subacute Inflammatory Demyelinating Polyneuropathy	Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor...	ORPHA:206594
Galloway-Mowat Syndrome 5	Brain atrophy, Focal segmental glomerulosclerosis, Hearing impairment, Steroid-resistant nephroti...	OMIM:617731
Porphyria Due To Ala Dehydratase Deficiency	Abdominal distention, Agitation, Abnormal fear-induced behavior, Increased urinary porphobilinoge...	ORPHA:100924
Drug-Induced Lupus Erythematosus	Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Prolonged QTc interval,...	ORPHA:231111
Ochoa Syndrome	Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic...	ORPHA:2704
Folinic Acid-Responsive Seizures	Optic atrophy, Abdominal distention, Frontotemporal cerebral atrophy, Hypsarrhythmia, Sensorineur...	ORPHA:79097
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Charcot-Marie-Tooth Disease, Type 4B2	Sensorineural hearing impairment, Decreased number of peripheral myelinated nerve fibers, Decreas...	OMIM:604563
Wolfram Syndrome	Polydipsia, Optic atrophy, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Senso...	ORPHA:3463
Congenital Myopathy 19	Low-set ears, Hearing impairment, Hydronephrosis, Posteriorly rotated ears, Dysphagia, Renal atrophy	OMIM:618578
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Sensorineural hearing impairment, Abnormal helix morphology, Polymicrogyria, Low-set...	OMIM:214100
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Cerebellar atrophy, Gait ataxia	ORPHA:217012
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Gastroesophageal reflux, Dilatation of renal calices, Pelvic kidney, Hearing impairment, Constipa...	ORPHA:466950
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Peripheral axonal neuropathy, Hearing impairment, Decreased number of large periph...	OMIM:617087
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder, Nausea, Neuronal loss in central nervous system, Periphera...	ORPHA:71211
Hypophosphatasia, Infantile	Stillbirth, Anemia, Unossified vertebral bodies, Hypercalciuria, Elevated plasma pyrophosphate, E...	OMIM:241500
Type 1 Diabetes Mellitus	Polydipsia, Polyuria, Polyphagia, Hyperglycemia, Diabetes mellitus	OMIM:222100
Renal Glucosuria	Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria	OMIM:233100
Trimethylaminuria	Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Abdominal pain, Dysu...	ORPHA:49041
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Hypertrophic cardiomyopathy, Portal hypertension, Re...	OMIM:619902
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebral atrophy, Hydroureter, Hypercalciuria, Low-set ears, Cerebellar atrophy, Renal cyst, Uret...	OMIM:615398
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Frequent falls	OMIM:615945
Non-Functioning Paraganglioma	Congestive heart failure, Hematuria, Hypertension associated with pheochromocytoma, Sinus tachyca...	ORPHA:94080
Humero-Radio-Ulnar Synostosis	Abnormality of the upper urinary tract, Abnormality of the ureter	ORPHA:3266
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Hearing impairment, Proteinuria, Insulin resistance	ORPHA:79087
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Neuroleptic Malignant Syndrome	Urinary incontinence, Bradycardia, Myoglobinuria, Hypertension, Hypertensive crisis, Acute kidney...	ORPHA:94093
Congenital Myopathy 17	Renal hypoplasia, Hydronephrosis, Low-set ears, Ureteropelvic junction obstruction	OMIM:618975
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Spinocerebellar Ataxia 38	Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai...	OMIM:615957
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Sensorineural hearing impairment, Tremor, Nephrotic syndrome, Cerebral cortical atrophy, Proteinu...	ORPHA:1192
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis	OMIM:158580
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Hereditary Butyrylcholinesterase Deficiency	Paralysis, Abnormal circulating enzyme concentration or activity	ORPHA:132
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Hypoplasia of penis, Sensorineural hearing impairment, Optic nerve...	ORPHA:3157
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Athetosis, Nephrolithiasis, Nausea, Tinnitus	ORPHA:369929
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral atrophy, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Cerebellar at...	OMIM:617672
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Sensorineural hearing impairment, Bilateral sensorineural hearing impairment, Hear...	OMIM:268315
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Cat-Eye Syndrome	Hearing impairment, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ...	ORPHA:464440
Familial Cold Urticaria	Polydipsia, Sensorineural hearing impairment, Nausea and vomiting, Abdominal pain	ORPHA:47045
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Wolfram Syndrome 1	Optic atrophy, Cerebral atrophy, Hydroureter, Sensorineural hearing impairment, Neurogenic bladde...	OMIM:222300
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Fasciculations, Abnormality of extrapyramidal motor function, As...	ORPHA:275864
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Polydipsia, Tinnitus, Nausea	ORPHA:251274
Immunodeficiency 53	Recurrent urinary tract infections, Failure to thrive, Neutrophilia, Impaired lymphocyte transfor...	OMIM:617585
Spinocerebellar Ataxia 25	Cerebellar atrophy, Urinary urgency, Hearing impairment, Vomiting, Decreased number of peripheral...	OMIM:608703
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Failure to thrive, Paratracheal ly...	OMIM:615934
Nephronophthisis 9	Polydipsia, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Acrocephalopolydactyly	Abnormal renal morphology, Microtia, Protuberant abdomen	ORPHA:221054
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Abdominal pain, Vesicoureteral reflux,...	ORPHA:617
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Intestinal Dysmotility Syndrome	Abdominal distention, Diarrhea, Projectile vomiting, Low-set ears, Decreased intestinal transit t...	OMIM:620045
Smith-Lemli-Opitz Syndrome	Hyperactivity, Cerebellar atrophy, Aggressive behavior, Aganglionic megacolon, Hypospadias, Heari...	OMIM:270400
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Transient ischemic attack, Reticulocytosis, Microscopic hematuria, Inc...	OMIM:274150
Dystonia 27	Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Central Diabetes Insipidus	Polydipsia, Anorexia, Diarrhea, Nocturia, Nausea and vomiting	ORPHA:178029
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Urinary incontinence, CNS demyelinati...	ORPHA:206448
Cystinosis	Polydipsia, Nephropathy, Vomiting, Proteinuria, Motor stereotypy, Malabsorption, Type I diabetes ...	ORPHA:213
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Maturity-onset diabetes of the young, Multiple glomerular cysts, Hypos...	OMIM:137920
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Thrombocytosis, Iron deficiency anemia, Intestinal lymphangiectasia, Hypopr...	OMIM:226300
2p15-16.1 microdeletion syndrome	Hydronephrosis, Feeding difficulties in infancy	DECIPHER:70
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Decreased sensory nerve conduction velocity, Gastroesophageal reflux, Diarr...	ORPHA:298
6P22 Microdeletion Syndrome	Hearing impairment, Hydronephrosis, Low-set ears, Overfolded helix	ORPHA:251046
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin...	OMIM:617872
8P23.1 Duplication Syndrome	Hearing impairment, Hydronephrosis	ORPHA:251076
Spinocerebellar Ataxia Type 38	Tremor, Cerebellar atrophy, Gait ataxia	ORPHA:423296
Granulomatous Slack Skin	Acute kidney injury, Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle...	OMIM:616053
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Hearing impairment, Constipa...	OMIM:613662
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of th...	ORPHA:223
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Gliosis, Tremor, Low-set ears, Delayed myelination, Ureteropelvic junc...	ORPHA:506358
Coenzyme Q10 Deficiency, Primary, 6	Sensorineural hearing impairment, Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse me...	OMIM:614650
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten...	ORPHA:101110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Optic atrophy, Bilateral sensorineural hearing impairment, Vomiting, Gl...	ORPHA:436271
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall...	OMIM:607317
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Action tremor, Upper limb postural tremor, Decreased number of periph...	OMIM:180800
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Vomiting, Nephrocalcinosis	OMIM:143880
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,...	OMIM:616963
Galactosemia I	Decreased liver function, Galactosuria, Diarrhea, Increased level of galactitol in urine, Vomitin...	OMIM:230400
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Hepatomegaly, Pancytopenia, Thromboc...	ORPHA:398124
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys...	OMIM:615362
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Abdominal distention, Urinary incontinence, Decreased nerve conduction velocity, B...	ORPHA:309256
Molybdenum Cofactor Deficiency, Complementation Group A	Cerebral atrophy, Xanthinuria, Decreased urinary sulfate, Gliosis, Increased urinary taurine, Dec...	OMIM:252150
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Hepatomegaly, Hypocalcemia, Failure to thrive, Splenomegaly, Abnorm...	ORPHA:172
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hypertension, Hyperlipidemia, Reticulocyt...	OMIM:235400
Hypophosphatasia	Hypercalcemia, Failure to thrive in infancy, Anemia, Craniosynostosis	ORPHA:436
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Low-set ears	ORPHA:444072
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Encephalopathy, Progressive, With Or Without Lipodystrophy	Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Dystonia, Ataxia, ...	OMIM:615924
Bardet-Biedl Syndrome 19	Hearing impairment, Renal hypoplasia, Hydronephrosis, Renal insufficiency	OMIM:615996
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Polydipsia, Decreased glomerular filtration rate, Hyperchloriduria,...	OMIM:602522
Spinocerebellar Ataxia Type 25	Episodic abdominal pain, Urinary urgency, Vomiting, Decreased number of large peripheral myelinat...	ORPHA:101111
Nephronophthisis 2	Hyperkalemia, Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubulointerstit...	OMIM:602088
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Enlarged kidney, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Foc...	OMIM:617303
Migraine, Familial Hemiplegic, 1	Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Isolated Polycystic Liver Disease	Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Multi...	ORPHA:2924
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Abdominal distention, Urinary incontinence, Decreased nerve conduction velocity, B...	ORPHA:309263
Primary Dystonia, Dyt13 Type	Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu...	ORPHA:98807
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei...	OMIM:619644
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Meckel Syndrome, Type 8	Abdominal distention, Enlarged kidney, Polycystic kidney dysplasia, Low-set ears, Hyperechogenic ...	OMIM:613885
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Low-set ears, Glycosuria, Nephrocalcinosis, Proteinuria, Lissencephaly, N...	OMIM:613404
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Abdominal distention, Intestinal pseudo-obstruction, Low-set ears, Vomiting, Hydronephrosis, Feed...	OMIM:300048
Leukoencephalopathy, Progressive, With Ovarian Failure	Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Hand tremor, Neurodegen...	OMIM:615889
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Wiedemann-Steiner Syndrome	Gastroesophageal reflux, Hyperactivity, Dilatation of renal calices, Low-set ears, Dysphagia, Mot...	ORPHA:319182
Smith-Lemli-Opitz Syndrome	Optic atrophy, Renal hypoplasia/aplasia, Aganglionic megacolon, Hypospadias, Low-set, posteriorly...	ORPHA:818
Diaminopentanuria	Spasticity, Neurodegeneration, Ataxia	OMIM:222350
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Nausea, Tinnitus, Increased urinary potassium	ORPHA:231580
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Hippocampal sclerosis, Myoclonus	OMIM:615400
Multiple Sulfatase Deficiency	Cerebral atrophy, Cerebellar atrophy, Mucopolysacchariduria, Hearing impairment, CNS demyelinatio...	OMIM:272200
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Al Amyloidosis	Renal interstitial amyloid deposits, Abnormality of the kidney, Gastrointestinal hemorrhage, Abdo...	ORPHA:85443
Acute Peripheral Arterial Occlusion	Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis,...	ORPHA:90064
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly	ORPHA:100025
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Peripheral hypomyelination, Decreased nerve conduction velocity, Aganglionic me...	OMIM:609136
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperuricemia, Hypertension, Hypotension, Leukocytosis, Hyperammonemia, Weight loss...	ORPHA:134
Spastic Ataxia 2, Autosomal Recessive	Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro...	OMIM:611302
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Image Syndrome	Hydronephrosis, Low-set ears, Hypospadias	ORPHA:85173
Nephronophthisis 1	Polydipsia, Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, ...	OMIM:256100
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Dilatation of renal calices, Low-set ears, Posteriorly rotated ears, Attention def...	OMIM:614294
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Hypertrophic nerve changes, Peripheral demyelination...	OMIM:145900
Gitelman Syndrome	Polydipsia, Polyuria, Hypocalciuria, Renal potassium wasting, Vertigo, Abdominal pain, Enuresis, ...	OMIM:263800
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Anemia, Hyperuricemia, Cardiac arrest, Leukocytosis, Hypotension, Hyperammonemia, 3...	ORPHA:20
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Optic atrophy, Sensorineural hearing impairment, Glycosuria, Hyperphosp...	OMIM:220110
Ravine Syndrome	Anorexia, Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials	ORPHA:99852
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Small earlobe, Microtia, Low-set ears, Grade II...	OMIM:619522
Lethal Congenital Contracture Syndrome 7	Paralysis, Cerebral atrophy, Cerebellar atrophy	OMIM:616286
Dystonia 3, Torsion, X-Linked	Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Axonal degeneration, Sensorineural hearing impairment, Tremor, Ce...	OMIM:302800
Rudiger Syndrome	Ureterovesical stenosis, Micropenis	OMIM:268650
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Generalized aminoaciduria, Diarrhea, Vomiting, Congenital sensorineural hearing...	OMIM:606528
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot...	OMIM:118200
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Sensorineur...	OMIM:613090
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Elbow flexion contracture, Mucopolysacchariduria, Ren...	OMIM:618440
Panhypophysitis	Polydipsia, Orthostatic hypotension, Hyposthenuria, Sensorineural hearing impairment, Nausea, Poo...	ORPHA:95513
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous...	OMIM:612526
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo...	OMIM:604326
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Panniculitis, Elevated circulating C-reactive protein concentration, Pancyt...	OMIM:615688
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Hypertrophi...	OMIM:601098
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Cerebral atrophy, Duplicated collecting system, Conductive hearing impairment, Uplifted earlobe, ...	OMIM:280000
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Peripheral axonal neuropathy, Abnormality of the up...	ORPHA:99885
Supranuclear Palsy, Progressive, 1	Bradykinesia, Cerebral atrophy, Senile plaques, Retrocollis, Axial dystonia, Neuronal loss in cen...	OMIM:601104
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Abnormal circulating enzyme concentration or activity, Chorea, Spasticity, Trem...	ORPHA:79263
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea...	OMIM:614895
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Tremor, Ataxia, Myoclonus	OMIM:616187
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Elevated urinary norepinephrine level, Hypercalc...	OMIM:171420
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Hypertrophic nerve changes, Axonal degeneration, CNS...	OMIM:214400
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech	OMIM:609161
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Abnormal cardiovascular system ...	ORPHA:168569
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Hand tremor, Onion bulb formation, Decreased compound muscle action potential amplitude, Peripher...	OMIM:618279
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell car...	ORPHA:93111
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Renal magnesium wasting, Self...	OMIM:618314
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Sclerosis of hand bone, Pulmonary arterial hyperten...	ORPHA:2905
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Scissor gait, Spasticity, ...	ORPHA:521406
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Urinary incontinence, Recurrent urina...	OMIM:609033
Primary Pulmonary Hypoplasia	Low-set ears, Ureteral stenosis	ORPHA:2257
Spinocerebellar Ataxia Type 12	Bradykinesia, Cerebral atrophy, Tremor by anatomical site, Poor fine motor coordination, Cerebell...	ORPHA:98762
Bardet-Biedl Syndrome 9	Polydipsia, Hyperglycemia, Renal insufficiency, Polyphagia	OMIM:615986
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebral atrophy, Cerebellar atrophy, Macrotia, Hydronephrosis, Feeding difficulties	OMIM:619797
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Xanthinuria, Gliosis, Increased urinary taurine, Decreased urinary urate, Incre...	OMIM:252160
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten...	ORPHA:71493
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Motor conduction block, ...	ORPHA:2932
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Sensorineural hearing impairment, Nephropathy, Microscopic hematuria, Thickened glomer...	OMIM:308940
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Babinski sign, Lower limb spasticity, Atrophy/Degeneration affecting the brainstem, Dysdiadochoki...	OMIM:612319
Orofaciodigital Syndrome Xv	Hydronephrosis, Low-set ears	OMIM:617127
Peroxisome Biogenesis Disorder 8B	Decreased liver function, Optic atrophy, Cerebellar vermis atrophy, Brain atrophy, Cerebellar atr...	OMIM:614877
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Cerebral atrophy, Apraxia, Resting...	OMIM:615157
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrophic cardiomyopathy, Pulm...	OMIM:615382
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalciuria, Generalized osteoporosis, Hyperphosphaturia, Nephrocalcinosis, Hyperc...	ORPHA:99879
Cloacal Exstrophy	Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux...	ORPHA:93929
Hand-Foot-Genital Syndrome	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruct...	OMIM:140000
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate...	ORPHA:276621
Oculocerebral Hypopigmentation Syndrome, Cross Type	Sensorineural hearing impairment, Athetosis, Ureteral stenosis, EEG abnormality, Abnormality of t...	ORPHA:2719
Galloway-Mowat Syndrome 4	Cerebral atrophy, Polymicrogyria, Focal segmental glomerulosclerosis, Congenital nephrotic syndro...	OMIM:617730
Tremor, Hereditary Essential, 1	Action tremor, Hand tremor, Postural tremor	OMIM:190300
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber...	OMIM:118210
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Polyuria, Vomiting, Constipation, Megacystis, Feeding difficulties in infancy	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Polyuria, Vomiting, Constipation, Megacystis, Feeding difficulties in infancy	OMIM:304800
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Beta-Mercaptolactate Cysteine Disulfiduria	EEG abnormality, Hypoplasia of the ear cartilage, Low-set, posteriorly rotated ears, Abnormality ...	ORPHA:1035
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebral atrophy, Recurrent otitis media, Unilateral renal agenesis, Gastroesophageal reflux, Hyp...	OMIM:618494
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Incoordination, Spasticity, Tremor, Gliosis, Cerebellar vermis atrophy, Gait ataxia,...	OMIM:213200
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Orthostatic hypotension, Macrocytic anemia,...	ORPHA:199299
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Glomerulopathy, Gastrointestinal hemorrhage, Hematu...	ORPHA:900
Charcot-Marie-Tooth Disease Type 1F	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Urinary incontinence, Decreased...	ORPHA:101085
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis...	OMIM:616216
Ceroid Lipofuscinosis, Neuronal, 7	Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia	OMIM:610951
Recombinant Chromosome 8 Syndrome	Cerebral atrophy, Low-set ears, Hearing impairment, Hydronephrosis, Posteriorly rotated ears, Del...	OMIM:179613
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Tremor, Dystonia, Myoclonus	OMIM:619651
Spinocerebellar Ataxia Type 37	Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Cogwheel rigidi...	ORPHA:363710
Multiple Myeloma	Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s...	ORPHA:29073
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Lowe-Kohn-Cohen Syndrome	Sensorineural hearing impairment, Nephropathy	ORPHA:2408
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Polymicrogyria, Delayed myelination, Hydronephrosis, Feeding difficulties, Multifocal epileptifor...	ORPHA:488613
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Sensorineural hearing impairment, Nephrotic syndrome, Proteinu...	OMIM:615244
Multicystic Dysplastic Kidney	Abdominal distention, Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruc...	ORPHA:1851
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Abdominal distention, Urinary incontinence, Decreased nerve conduction velocity, B...	ORPHA:309271
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Abnormal CNS myelination, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hy...	OMIM:611555
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Ankle clonus	OMIM:615768
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Dystonia 11, Myoclonic	Writer's cramp, Tremor, Torticollis, Myoclonus	OMIM:159900
Kabuki Syndrome 1	Recurrent otitis media, Low-set ears, Hearing impairment, Macrotia, Ureteropelvic junction obstru...	OMIM:147920
Deafness, Autosomal Dominant 9	Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo...	OMIM:601369
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Hyperleucinemia, Increased blood urea ...	OMIM:620085
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Nephrolithiasis	OMIM:617343
Gitelman Syndrome	Polydipsia, Urinary incontinence, Renal potassium wasting, Vertigo, Nocturia, Nausea and vomiting...	ORPHA:358
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebral atrophy, Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, ...	OMIM:203700
Monosomy 9P	Hypospadias, Abnormal antihelix morphology, Microtia, Low-set ears, Atresia of the external audit...	ORPHA:261112
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Ureteral duplication, Low-set ears, Renal duplication, Secretory diarrhea, ...	OMIM:270420
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hypertension,...	OMIM:232220
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parki...	OMIM:618093
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, CNS hypo...	ORPHA:280234
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, 3-Methylglutaconic aciduria, Prolonged QT interval, Hypospadias, Noncom...	OMIM:610198
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls	OMIM:616921
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To...	ORPHA:90647
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Renal cyst, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Urinary incontinence, Brain atrophy, Onion bulb formation, M...	OMIM:615284
Idiopathic Hypereosinophilic Syndrome	Splenomegaly, Supraventricular arrhythmia, Transient ischemic attack, Myelofibrosis, Failure to t...	ORPHA:3260
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Neuronal loss in central nervous system, Tremor, Cerebellar atrophy, ...	OMIM:610245
Charcot-Marie-Tooth Disease Type 1B	Hearing impairment, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral...	ORPHA:101082
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystoni...	OMIM:272750
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Hematuria, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertensi...	OMIM:617021
Spinocerebellar Ataxia 18	Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria	OMIM:607458
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the brainstem, Sensory...	OMIM:271245
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Renal cyst	OMIM:174050
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Failure to thrive, Hyperphosphaturia,...	OMIM:239200
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Deafness, Autosomal Dominant 23	Sensorineural hearing impairment, Vesicoureteral reflux, Conductive hearing impairment	OMIM:605192
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention, Abnormality of the kidney, Hypoglycemia, Proteinuria	ORPHA:369
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Sensorineural hearing impairment, Type I diabetes mellitus, Hydronephrosis, Moderate albuminuria	OMIM:619269
Relapsing Fever	Acute kidney injury, Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Le...	ORPHA:91547
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic...	OMIM:128230
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Demyelinating peri...	ORPHA:99953
Immunodeficiency 92	Hepatomegaly, Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytop...	OMIM:619652
Nephronophthisis 4	Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage...	OMIM:606966
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter, Feeding difficulties, Optic disc pallor	OMIM:618240
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Frequent falls, Tremor, Chorea	ORPHA:494526
Suleiman-El-Hattab Syndrome	Low-set ears, Hearing impairment, Hydronephrosis, Feeding difficulties, Protruding ear, Overfolde...	OMIM:618950
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Congenital posterior urethral valve, Aggressive behav...	ORPHA:821
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Senior-Boichis Syndrome	Polydipsia, Agitation, Tubular luminal dilatation, Chronic kidney disease, Aggressive behavior, A...	ORPHA:84081
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal...	OMIM:606159
Trisomy 13	Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal helix mo...	ORPHA:3378
Glucose/Galactose Malabsorption	Abdominal distention, Chronic diarrhea, Glycosuria, Malabsorption, Abnormal oral glucose toleranc...	OMIM:606824
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hyperprostaglandinuria, Renal potassi...	OMIM:241200
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Oromandibular dystonia, Rigidity, Dystonia, Spastic tetraplegia, Spastic paraparesi...	OMIM:615643
22Q11.2 Duplication Syndrome	Compulsive behaviors, Hearing impairment, Hydronephrosis, Displacement of the urethral meatus, Mo...	ORPHA:1727
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased number ...	OMIM:608673
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Decreased ...	ORPHA:90103
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Hypsarrhythmia, EEG with occipital epileptiform discharges, He...	OMIM:619428
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Decre...	OMIM:607706
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Enlarged kidney, Anemia, Heavy proteinuria, Pulmonary arterial hyperten...	ORPHA:505248
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-...	ORPHA:85451
Rabson-Mendenhall Syndrome	Polydipsia, Fasting hypoglycemia, Long penis, Impaired glucose tolerance, CNS demyelination, Macr...	ORPHA:769
Arima Syndrome	Polydipsia, Polyuria, Optic atrophy, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Po...	OMIM:243910
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Abnormal subcutaneous fat tissue distribution, Hepatomegaly, Proximal tubulopathy, Ca...	OMIM:212065
Nail-Patella-Like Renal Disease	Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2613
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalciuria, Hypercalcemia, Craniosynostosis, Micropenis	OMIM:614732
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor	OMIM:182980
Paroxysmal Nocturnal Hemoglobinuria	Hypertension, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Unconjugate...	ORPHA:447
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From...	OMIM:162500
15Q Overgrowth Syndrome	Mixed hearing impairment, Low-set, posteriorly rotated ears, Abnormal renal morphology, Brain atr...	ORPHA:314585
Optic Atrophy 3, Autosomal Dominant	Abnormality of extrapyramidal motor function, Tremor	OMIM:165300
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Unilateral renal agenesis, Hydronephrosis, Feeding difficulties, Chronic co...	OMIM:609757
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel...	OMIM:605253
Muscular Dystrophy, Becker Type	Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Trun...	ORPHA:309854
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign...	ORPHA:79262
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Coenzyme Q10 Deficiency, Primary, 1	Glomerular sclerosis, Recurrent myoglobinuria, Episodic vomiting, Sensorineural hearing impairmen...	OMIM:607426
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Polydipsia, Renal phosphate wasting, Proximal tubulopathy, Micr...	ORPHA:411634
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment, Abnormal cochlea morphology	OMIM:618778
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Elevated circulating creatin...	OMIM:608836
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral atrophy, Urinary incontinence, Sensorineural hearing impairment, Dystonia, Delayed perip...	ORPHA:464282
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Teebi-Shaltout Syndrome	Hypoplastic helices, Small earlobe, Low-set ears, Ureteral stenosis, Hydronephrosis, Horseshoe ki...	OMIM:272950
Adult-onset autosomal dominant leukodystrophy (ADLD)	Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination	DECIPHER:59
8Q12 Microduplication Syndrome	Gastroesophageal reflux, Abnormal cranial nerve morphology, Sensorineural hearing impairment, Ves...	ORPHA:228399
Dopamine Beta-Hydroxylase Deficiency	Anemia, Orthostatic hypotension, Orthostatic syncope, Elevated urinary dopamine level, Increased ...	ORPHA:230
Diabetic Embryopathy	Renal hypoplasia/aplasia, Ureteral duplication, Low-set, posteriorly rotated ears, Microtia, Hear...	ORPHA:1926
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil...	OMIM:218000
Senior-Loken Syndrome 3	Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome...	OMIM:606995
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro...	ORPHA:54370
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste...	ORPHA:398063
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Reduced le...	ORPHA:45452
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Normocytic anemia, Orthostatic hypotension, Hyperuricemia, Hypo...	ORPHA:95409
Hypomagnesemia 3, Renal	Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuri...	OMIM:248250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dyspla...	OMIM:263200
Joubert Syndrome 35	Recurrent urinary tract infections, Low-set ears, Renal fibrosis, Hydronephrosis, Multicystic kid...	OMIM:618161
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:161900
Familial Hyperaldosteronism Type I	Polydipsia, Nausea, Tinnitus	ORPHA:403
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Optic atrophy, Multiple glomerular cysts, Episodic vomiting, Se...	ORPHA:255210
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Sensorineural hearing impairment, Gliosis, Vesicoureteral reflux, Mi...	OMIM:120330
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac...	ORPHA:98826
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Kleine-Levin Syndrome	Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Nausea, Poor appetite, Repetitive co...	ORPHA:33543
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent fall...	ORPHA:216873
Thymic Neuroendocrine Tumor	Osteopenia, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Neoplasm of the t...	ORPHA:97289
Colchicine Poisoning	Myocarditis, Congestive heart failure, Abnormal blood ion concentration, Hypokalemia, Hypocalcemi...	ORPHA:31824
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Prolonged QT interval, Increased bone mineral density, Hypocalcemia, Calci...	ORPHA:36913
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Dysgyria, Brain atrophy, Tremor, Cerebellar atrophy, Exaggerated startle response, Hearing impair...	OMIM:620327
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia, Degenerat...	OMIM:600363
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Gastroesophageal reflux, Orthostatic hypotension, Recurrent urinary tract infections...	OMIM:191800
Galloway-Mowat Syndrome 2, X-Linked	Cerebral atrophy, Minimal change glomerulonephritis, Polymicrogyria, Cerebellar atrophy, Focal se...	OMIM:301006
Chromosome 2P16.1-P15 Deletion Syndrome	Cerebral atrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Low-set ears, Hearing...	OMIM:612513
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul...	OMIM:608323
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate...	ORPHA:29072
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decr...	OMIM:609311
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Glomerular sclerosis, Microtia, Aplasia of the bladder, Ureterocele, Vomiti...	ORPHA:158684
Adult-Onset Autosomal Dominant Leukodystrophy	Sensorineural hearing impairment, Atrophy/Degeneration affecting the brainstem, Abnormal autonomi...	ORPHA:99027
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Hearing impairment, Nephri...	OMIM:203780
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Okamoto Syndrome	Urinary incontinence, Gastroesophageal reflux, Abnormal helix morphology, Low-set ears, Macrotia,...	ORPHA:2729
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Celiac Disease, Susceptibility To, 1	Rickets, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Osteoporosis, Failure to thrive...	OMIM:212750
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Hypotension, Nephr...	ORPHA:85445
Reni Syndrome	Sensorineural hearing impairment, Hypoglycemia, Focal segmental glomerulosclerosis, Podocyte foot...	OMIM:617575
Familial Visceral Myopathy	Abdominal distention, Aganglionic megacolon, Hydroureter, Low-set, posteriorly rotated ears, Vesi...	ORPHA:2604
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ...	ORPHA:251282
Nephronophthisis 11	Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613550
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus...	ORPHA:2169
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal distention, Recurrent urinary tract infections, Vertigo, Abdominal pain, Naus...	ORPHA:51890
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603552
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid...	ORPHA:98763
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Cerebral atrophy, Resting tremor, Tremor, Cogwh...	OMIM:600116
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensorineural hearing impairment...	OMIM:618733
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276244
Trichohepatoenteric Syndrome 1	Hepatomegaly, Abnormality of iron homeostasis, Aortic regurgitation, Hypospadias, Galactosuria, H...	OMIM:222470
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Facial diplegia, Feeding difficulties, Oral-pharyngeal dysphagia	OMIM:616287
Myh9-Related Disease	Renal insufficiency, Sensorineural hearing impairment, Nephritis, Proteinuria, Nephropathy	ORPHA:182050
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrhage, Hypophosphatemic rickets...	OMIM:276700
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Blue Diaper Syndrome	Blue urine, Increased body weight, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Cerebral atrophy, Glomerulopathy, Hemolytic-uremic syndrome, Atrophy of the spinal...	ORPHA:79282
Familial Renal Glucosuria	Glycosuria, Recurrent urinary tract infections, Nephropathy, Renal tubular dysfunction	ORPHA:69076
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conducti...	OMIM:604168
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Syndromic Diarrhea	Hepatomegaly, Abnormality of iron homeostasis, Aortic regurgitation, Inguinal hernia, Polycystic ...	ORPHA:84064
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia	OMIM:616871
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Hypercalcemia	OMIM:239199
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:94090
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Abdominal distention, Urinary incontinence, Increased...	ORPHA:79276
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Hematuria, Impaired platelet adhesion, Joint hemorrhage, Epistaxis, ...	ORPHA:324636
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal cardiac ventricular function, Bone...	ORPHA:797
Renal Hypoplasia, Bilateral	Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst...	ORPHA:97362
Vici Syndrome	Optic atrophy, Renal tubular acidosis, Sensorineural hearing impairment, Gray matter heterotopia,...	ORPHA:1493
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus	OMIM:616494
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hyperc...	ORPHA:47159
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Cerebral cortical atrophy, Rigidity, Dystonia, Weight loss	OMIM:606438
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossif...	ORPHA:289157
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Low-set, posteriorly rotated ears, Abnormal p...	ORPHA:568
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis, Slender build	OMIM:611087
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Renal artery stenosis, Elevated urinary norepine...	OMIM:171300
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Agitation, Hyperinsulinemia, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Fasting hypoglycemi...	ORPHA:263455
Distal Duplication 6P	Aplasia/Hypoplasia of the earlobes, Low-set ears, Abnormal antitragus morphology, Renal hypoplasi...	ORPHA:1745
Neuropathy, Hereditary Sensory, Type Ie	Cerebral atrophy, Sensorineural hearing impairment, Impulsivity, Hearing impairment, Decreased nu...	OMIM:614116
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Failure to...	ORPHA:47
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor, Hemolytic anemia	OMIM:609153
Alport Syndrome	Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial fibrosis, Sensorineural...	ORPHA:63
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination, Axonal degeneration/regeneration, Onion bulb formation, Segme...	OMIM:606483
Zellweger Syndrome	Optic atrophy, Hypospadias, Sensorineural hearing impairment, Abnormal pinna morphology, Polymicr...	ORPHA:912
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:600740
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Apparent Mineralocorticoid Excess	Polydipsia, Nephrocalcinosis, Renal insufficiency, Abnormal urine sodium concentration	ORPHA:320
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Proteinuria	ORPHA:2134
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h...	OMIM:618849
Nephrotic Syndrome, Type 1	Abdominal distention, Glomerular sclerosis, Gastroesophageal reflux, Congenital nephrotic syndrom...	OMIM:256300
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Hyperactivity, Low-set ears, Abnormal optic disc morphology, H...	OMIM:617516
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Nephrotic syndrome, Proteinu...	OMIM:617006
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin...	OMIM:145001
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Global brain atrophy, Hypospadias, Duplicated collecting system, Optic nerve hypoplasia, Vesicour...	OMIM:301056
Donohue Syndrome	Abdominal distention, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Low-set ears, Macrotia,...	OMIM:246200
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Reduced left ventricular ejection fraction, Hypokalemia, Elevated left ventricular end-...	OMIM:620152
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Bence Jones Proteinuria, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnor...	ORPHA:100024
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Cerebral cortical a...	OMIM:604360
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Infantile Myofibromatosis	Abnormality of the kidney, Bone cyst, Hypercalcemia, Osteolysis, Chondrocalcinosis	ORPHA:2591
Variegate Porphyria	Paralysis	OMIM:176200
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Optic atrophy, Sensorineural hearing impairment, Undetectable visual evoked potentials, Periphera...	OMIM:601338
Senior-Loken Syndrome 1	Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating...	OMIM:266900
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spa...	OMIM:300894
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Asplenia, Pulmonic stenos...	OMIM:615415
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Babinski sign, Cerebral atrophy, Lower limb spasticity, Fasciculations, Cerebellar...	OMIM:615491
Brucellosis	Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Myocarditis, Transient isc...	ORPHA:1304
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis	OMIM:605285
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Igg4-Related Kidney Disease	Decreased liver function, Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial im...	ORPHA:449395
Neuroectodermal Melanolysosomal Disease	Hypertonia, Spasticity, Tremor, Subcortical cerebral atrophy, Cerebral cortical atrophy, Rigidity...	ORPHA:33445
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ...	OMIM:620378
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cerebellar atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hearing impairment, E...	OMIM:301108
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe...	OMIM:618184
Metachromatic Leukodystrophy	Optic atrophy, Decreased nerve conduction velocity, Urinary incontinence, Dystonia, Peripheral de...	OMIM:250100
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Feeding difficulties	OMIM:614652
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi...	ORPHA:98870
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperactivity, Impulsivity, Head titubation, EEG abnormality, Bruxism, Leukodystrophy, Aggressive...	OMIM:619475
Fanconi-Bickel Syndrome	Abdominal distention, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Fasting ...	ORPHA:2088
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Vasculitis, Leukocytosis, ...	ORPHA:37748
Adamantinoma	Hypercalcemia	ORPHA:55881
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegal...	OMIM:185000
Smith-Magenis Syndrome	Chronic otitis media, Renal hypoplasia/aplasia, Gastroesophageal reflux, Abnormality of the urete...	ORPHA:819
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Enlarged kidney, Hepatomegaly, Anemia, Hypercholesterolemia, Hy...	ORPHA:79259
Parathyroid Carcinoma	Lipoma, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Osteoporosis, Renal cyst, Nephrocalcino...	ORPHA:143
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Sensorineural hearing impairment, Nephrotic syndrome, Microscopic hematuria, Thickened...	OMIM:104200
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276241
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Addison Disease	Renal salt wasting, Hyperkalemia, Normocytic anemia, Generalized bone demineralization, Orthostat...	ORPHA:85138
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Impaired oropharyngeal swallow response, Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Sensorineural hearing impairment, Nephrotic syndrome, Cereb...	ORPHA:488627
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Polydipsia, Vomiting, Glycosuria, Hyperphosphaturia, Renal Fanc...	ORPHA:411629
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Fasciculations, Tetraplegia, Gliosis, Degeneration of anterior horn cells, H...	OMIM:604484
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Gastroesophageal reflux, Microtia, Renal cyst, Abnormality of the urete...	ORPHA:1834
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Brain atrophy, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical hemia...	ORPHA:306669
Myofibrillar Myopathy 10	Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Elbow flexion contra...	OMIM:619040
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti...	ORPHA:567544
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,...	OMIM:610532
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus	ORPHA:308
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormality of the ureter, Overfolded helix, Hypoplasia of penis	ORPHA:3409
Lassa Fever	Diarrhea, Nausea and vomiting, Abdominal pain, Hearing impairment, Dysphagia, Oliguria	ORPHA:99824
Trehalase Deficiency	Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption	ORPHA:103909
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Abnormal circulating enzyme concentration or activity, Tremor, Limb myoclonus, ...	ORPHA:2590
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Choreoathetosis, Hemol...	OMIM:612126
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Pseudopapilledema, Sensorineural hearing impairment, Nephr...	OMIM:146255
Oculoskeletodental Syndrome	Hypocalcemia, Enamel hypoplasia, Nephrocalcinosis, Hypercalcemia	ORPHA:557003
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Small for gestational age	OMIM:278780
Cystinosis, Nephropathic	Low-molecular-weight proteinuria, Polyuria, Polydipsia, Cerebral atrophy, Hematuria, Generalized ...	OMIM:219800
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce...	ORPHA:90065
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibril...	OMIM:613327
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Gliosis, Symmetric peripheral demyelination, Bowel incontinence, Autonomic erectile dysfunction, ...	OMIM:169500
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Hypospadias, Abnormality of the ureter	ORPHA:2522
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia, Neutropenia	OMIM:616949
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incontinence, Constipa...	ORPHA:84085
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria, Cardiomyopathy, Abnormal EKG	OMIM:309930
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Recurrent otitis media, Hearing abnormality, Hypospadias, Dilatation of renal cali...	ORPHA:3455
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Diabetes Mellitus, Permanent Neonatal, 3	Interictal epileptiform activity, Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus,...	OMIM:618857
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:605588
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Ataxia, Dysmetria	OMIM:617917
Imerslund-Grasbeck Syndrome 2	Diarrhea, Recurrent urinary tract infections, Proteinuria, Renal insufficiency, Moderate albuminuria	OMIM:618882
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Aredyld Syndrome	Abnormal tragus morphology, Low-set, posteriorly rotated ears, Abnormality of the ureter, Type II...	ORPHA:1133
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Kleefstra Syndrome	Chronic otitis media, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Vesicoureteral r...	ORPHA:261494
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Aganglionic megacolon, Vesicoureteral reflux, Renal agenesis, Proteinu...	ORPHA:261222
Generalized Pustular Psoriasis	Congestive heart failure, Elevated circulating C-reactive protein concentration, Hypocalcemia, Le...	ORPHA:247353
Hyperparathyroidism-Jaw Tumor Syndrome	Lipoma, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Osteoporosis, Renal cyst, Nephrocalcino...	ORPHA:99880
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti...	ORPHA:90044
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Mixed hearing impairment, Unilatera...	OMIM:113650
Neurodegeneration With Brain Iron Accumulation 7	Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria	OMIM:617916
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Clusters...	ORPHA:101097
7Q31 Microdeletion Syndrome	Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Galactosuria, Tortico...	ORPHA:251061
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Dystonia, Peripheral demyelination	OMIM:250850
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Sensorineural hearing impairment, Compulsive behaviors, Enuresis, Polyphagia, Abnorma...	ORPHA:293987
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Glomerulopathy, Macrotia, Proteinuria, Large earlobe, Choreoathetosis, Renal insuf...	ORPHA:2715
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Cerebellar vermis atrophy, Spasticity, Tremor, Frequent falls, Gait ataxia, Splenome...	OMIM:616719
Dystonia 28, Childhood-Onset	Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst...	OMIM:617284
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of...	OMIM:612840
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, ...	OMIM:601005
Systemic Sclerosis	Abnormality of the kidney, Acute kidney injury, Gastroparesis, Gastroesophageal reflux, Bowel inc...	ORPHA:90291
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Peripheral axonal neuropathy, Onion bulb formation	OMIM:615035
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Sensorineural hearing impairment, Renal artery stenosis, Proteinuria, Diabetes mellitus, Nephropathy	OMIM:209010
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Low-set ears, Renal hypoplasia, Hydronephrosis, Overfolded helix	OMIM:613735
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria, Polydipsia	OMIM:613677
Kury-Isidor Syndrome	Recurrent otitis media, Low-set ears, Hydronephrosis, Feeding difficulties, Attention deficit hyp...	OMIM:619762
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Hepatomegaly, P...	ORPHA:57777
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Low-set ears, Hematochezia, Feeding difficulties, Secretory diarrhea, Renal dysplasia	OMIM:618183
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Bacterial Toxic-Shock Syndrome	Myocarditis, Fasciitis, Renal insufficiency, Capillary leak, Recurrent urinary tract infections, ...	ORPHA:36234
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Abdominal pain, Focal segmental glomerulosclerosis, Microscopi...	ORPHA:567546
Spinocerebellar Ataxia 50	Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi...	OMIM:620158
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Hypertension, Leukocytosis, Lymphadenitis, Cerebral hemorrhage, Prot...	OMIM:618886
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy, Abnormal a...	OMIM:619260
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Onion bulb formation, Peripheral demyelination	OMIM:615185
Donnai-Barrow Syndrome	Sensorineural hearing impairment, Posteriorly rotated ears, Proteinuria	ORPHA:2143
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma	OMIM:618272
Bartter Syndrome, Type 1, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Chondrocalcinosis, H...	OMIM:601678
Ohdo Syndrome	Stenosis of the external auditory canal, Microtia, Hearing impairment, Proteinuria, Feeding diffi...	OMIM:249620
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti...	OMIM:615573
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Sensorineural hearing imp...	OMIM:162400
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li...	OMIM:213600
Tetraploidy	Renal hypoplasia/aplasia, Hypoplasia of the ear cartilage, Hydronephrosis	ORPHA:3305
Usher Syndrome Type 1	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic...	ORPHA:231169
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Diabetes me...	OMIM:608709
Diamond-Blackfan Anemia 1	Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr...	OMIM:105650
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re...	OMIM:616881
Immunodeficiency 15B	Failure to thrive, Monocytosis, Reduced natural killer cell count	OMIM:615592
Charcot-Marie-Tooth Disease, Type 4J	Peripheral hypomyelination, Decreased nerve conduction velocity, Decreased motor nerve conduction...	OMIM:611228
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Constipation, Hy...	OMIM:236730
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Increased bone miner...	OMIM:259700
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d...	OMIM:617609
Kawasaki Disease	Myocarditis, Congestive heart failure, Elevated circulating C-reactive protein concentration, Vas...	ORPHA:2331
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased compound muscle action potential amplitude, Decreased number of peripheral myelinated n...	OMIM:600882
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Decreased distal sensory nerve action potential, Urinary incontinence, Brain atrophy, Sensory axo...	ORPHA:466768
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v...	OMIM:607684
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Proteinuria, Sensorineural hearing impairment, ...	OMIM:256550
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Osteolysis, Pancyt...	ORPHA:98850
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Pontocerebellar atrophy, Urinary incontinence, Atrophy/Degeneration affecting the ...	ORPHA:171629
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Cardiomyopathy, Failure to thrive, Hyperammonemia, Thrombocytopenia, Spleno...	ORPHA:79312
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Subperiosteal bone formation, Increased renal tubular phosphate reabsorption, Hyperos...	OMIM:211900
Lead Poisoning	Anorexia, Abdominal distention, Abdominal pain, Abnormality of the autonomic nervous system, Vomi...	ORPHA:330015
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spa...	ORPHA:329284
Hereditary Central Diabetes Insipidus	Polydipsia, Diarrhea, Vomiting	ORPHA:30925
Schinzel-Giedion Midface Retraction Syndrome	Cerebral atrophy, Hydroureter, Hypospadias, Hypsarrhythmia, Low-set ears, Ureteral stenosis, Hydr...	OMIM:269150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Micro Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Hypoplasia of penis, Cerebral cortical atrophy,...	ORPHA:2510
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis	ORPHA:1046
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly	OMIM:619658
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Renal hypoplasia, Conductive...	ORPHA:1307
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Renal hypoplasia/aplasia, Low-set, posteriorly rotated ears, Microtia, Abnormality of the ureter,...	ORPHA:1770
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Increased circulating free fa...	ORPHA:26793
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Autosomal Spastic Paraplegia Type 58	Cerebral atrophy, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spastici...	ORPHA:397946
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Global brain atrophy, Truncal ataxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait ataxia...	OMIM:610185
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Global brain atrophy, Chorea, Tremor, Cerebellar atrophy, Act...	OMIM:619738
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Cerebral atrophy, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe...	OMIM:617435
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:600995
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Macrotia, Hydronephrosis, Posteriorly rotated ears, Overfolded helix	ORPHA:2083
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Constipatio...	OMIM:615112
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion...	OMIM:310300
Pseudohypoparathyroidism Type 1B	Low urinary cyclic AMP response to PTH administration, Prolonged QT interval, Hypocalcemic seizur...	ORPHA:94089
Histidinuria-Renal Tubular Defect Syndrome	Sensorineural hearing impairment, Histidinuria, Cerebral cortical atrophy, Impaired histidine ren...	ORPHA:2158
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Glucose-Galactose Malabsorption	Abdominal distention, Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Osmotic diarrhea, Malnutrit...	ORPHA:35710
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Visceral Myopathy 1	Abdominal distention, Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Diarrh...	OMIM:155310
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hematuria, Diarrhea, Sensorineural hearing impairment, Abdominal pain, Proteinuri...	ORPHA:36412
Amyotrophic Lateral Sclerosis	Babinski sign, Fasciculations, Cachexia, Spasticity, Motor neuron atrophy, Neurodegeneration, Par...	ORPHA:803
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n...	OMIM:608340
Hereditary Orotic Aciduria	Oroticaciduria, Low-set, posteriorly rotated ears, Abnormality of the ureter, Orotic acid crystal...	ORPHA:30
Sialuria	Attention deficit hyperactivity disorder, Increased level of N-acetylneuraminic acid in urine, Lo...	OMIM:269921
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Abdominal pain, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihy...	OMIM:614723
Cogan Syndrome	Large vessel vasculitis, Anemia, Aortic regurgitation, Vasculitis, Leukocytosis, Thrombocytosis	ORPHA:1467
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi...	ORPHA:98849
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Myasthenia Gravis	Hearing impairment, Glycosuria, Dysphagia	ORPHA:589
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ...	OMIM:618052
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Cockayne Syndrome Type 1	Optic atrophy, Abnormality of peripheral nerve conduction, Diarrhea, Tremor, Absent brainstem aud...	ORPHA:90321
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Congenital Disorder Of Glycosylation, Type Iim	Cerebral atrophy, Gastroesophageal reflux, Vesicovaginal fistula, Hypsarrhythmia, Ureteropelvic j...	OMIM:300896
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Acute kidney injury, Enlarged kidney, Gastrointestinal hemorrhage, Polycystic kidney ...	ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Hyperalaninemia, Failure to thrive, Left ven...	OMIM:619048
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebral atrophy, Ureteral duplication, Gastroesophageal reflux, Vesicoureteral reflux, Low-set e...	OMIM:614080
Cockayne Syndrome Type 3	Abnormality of peripheral nerve conduction, Hydroureter, Unilateral renal agenesis, Gastroesophag...	ORPHA:90324
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Sensorineural hearing impairment, Microti...	ORPHA:314588
Galloway-Mowat Syndrome 6	Cerebellar vermis atrophy, Cerebellar atrophy, Focal segmental glomerulosclerosis, Nephrotic synd...	OMIM:618347
Pendred Syndrome	Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque...	ORPHA:705
Joubert Syndrome 37	Low-set ears, Hydronephrosis, Micropenis, Posteriorly rotated ears	OMIM:619185
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Increased circulating lactate dehydroge...	OMIM:619405
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Gastroesophageal reflux, Hydronephrosis, Dyston...	ORPHA:457193
Pediatric Systemic Lupus Erythematosus	Abdominal distention, Hematuria, Abnormality of the urinary system, Abdominal pain, Diarrhea, Nep...	ORPHA:93552
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Microtia, Abnormality of the upper ...	ORPHA:2547
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria	OMIM:615605
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait ataxia, Dys...	OMIM:617145
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Usher Syndrome Type 3	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231183
Congenital Disorder Of Glycosylation, Type Iig	Cerebral atrophy, Hemolytic-uremic syndrome, Hypospadias, Stenosis of the external auditory canal...	OMIM:611209
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Inguinal...	OMIM:612541
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Nocturia, Hypomagnes...	OMIM:223360
Spinocerebellar Ataxia Type 43	Cerebellar vermis atrophy, Peripheral axonal neuropathy, Decreased number of large peripheral mye...	ORPHA:497764
Corticobasal Syndrome	Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis...	ORPHA:98757
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria	OMIM:618913
Fanconi-Bickel Syndrome	Abdominal distention, Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Fasti...	OMIM:227810
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai...	OMIM:134600
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Elevated circulating C-reactive protein...	OMIM:301074
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Sensorineural hearing impairment, Brain atrophy, F...	OMIM:620275
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pu...	ORPHA:75565
Otopalatodigital Syndrome Type 2	Hypospadias, Abnormal pinna morphology, Low-set ears, Hearing impairment, Ureteral obstruction, H...	ORPHA:90652
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul...	OMIM:616201
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Low-set ears, Hearing impairment, Urethral valv...	ORPHA:261290
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Diarrhea, Abdominal pain, Proteinuria, Renal insufficiency	ORPHA:54057
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp...	ORPHA:284426
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Toriello-Lacassie-Droste Syndrome	Epispadias, Aganglionic megacolon, Hypospadias, Abnormality of the bladder, Abnormality of the ur...	ORPHA:3339
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Spinocerebellar atrophy, Head tremor, Hearing impairment, Cochlear degeneration	ORPHA:95433
Helix Syndrome	Polydipsia, Polyuria, Hypocalciuria, Nephrolithiasis, Renal insufficiency	OMIM:617671
Toxic Epidermal Necrolysis	Polydipsia, Gastrointestinal hemorrhage, Abdominal pain, Dysuria, Acute hepatic failure, Dysphagi...	ORPHA:537
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon	OMIM:235760
Idiopathic Steroid-Resistant Nephrotic Syndrome	Acute kidney injury, Minimal change glomerulonephritis, Abdominal pain, Abnormal glomerular visce...	ORPHA:567548
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Abnormality of the kidney, Aganglionic megacolon, Gastroesophageal reflux, Hypopla...	ORPHA:847
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hypercalciuria, Hyperphosphaturia, Hip contracture, Nephrocalcinosis, Hypercalcemia, ...	OMIM:156400
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Ly...	ORPHA:486
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Stillbirth, Anemia, Hypochromic microcytic anemia, Hepatomeg...	OMIM:259720
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Dysmetria	OMIM:619028
Fraser Syndrome 2	Abdominal distention, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder...	OMIM:617666
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida...	ORPHA:139485
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:613913
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Nephrocal...	OMIM:607364
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating...	OMIM:617099
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Galloway-Mowat Syndrome	Nephrotic syndrome, Macrotia, Abnormality of neuronal migration, Hypoplasia of the ear cartilage,...	ORPHA:2065
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Low-set ears, Facial palsy, Hearing impairment, Attention ...	ORPHA:261349
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism	OMIM:128235
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hyperphosphaturia, Hypophosphatemia...	ORPHA:89937
C3 Glomerulopathy	Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro...	ORPHA:329918
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Low-set ears, Hydronephrosis, Micropenis, Hepatic failure	OMIM:235255
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Hemochromatosis, Type 3	Anemia, Cardiomyopathy, Increased circulating iron concentration, Lymphopenia, Elevated transferr...	OMIM:604250
Lipodystrophy, Familial Partial, Type 7	Polyuria, Orthostatic hypotension, Diarrhea, Low-set ears, Impaired glucose tolerance, Vomiting, ...	OMIM:606721
Mucopolysaccharidosis Type 3	Chronic otitis media, Intermittent diarrhea, Mixed hearing impairment, Hyperactivity, Sensorineur...	ORPHA:581
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:145981
Interstitial Lung And Liver Disease	Hepatomegaly, Anemia, Failure to thrive, Hyperammonemia, Thrombocytosis, Aminoaciduria	OMIM:615486
Toluene Embryopathy	Protruding ear, Hydronephrosis, Low-set ears, Abnormal localization of kidney	ORPHA:1920
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hypertension,...	OMIM:232200
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	EEG with generalized slow activity, Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Galloway-Mowat Syndrome 10	Cerebral atrophy, Cerebellar atrophy, Podocyte foot process effacement, Simplified gyral pattern,...	OMIM:619609
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Developmental Delay With Or Without Dysmorphic Facies And Autism	Polymicrogyria, Atrophy/Degeneration affecting the brainstem, Vesicoureteral reflux, Low-set ears...	OMIM:618454
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Recurrent urinary tract infections, Nephrolithiasis, Hypoperistalsis, Fetal...	OMIM:619365
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, ...	ORPHA:90362
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, Hypsarrhythmia, Feeding difficulties, Simplified gyral pattern, Delayed CNS myelin...	OMIM:614231
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy	OMIM:105200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention, Sensorineural hearing impairment, Anuria, Fetal megacystis, Renal cortical ...	OMIM:619351
Erdheim-Chester Disease	Polydipsia, Abdominal pain, Dysuria, Hydronephrosis, Nausea and vomiting, Renal insufficiency	ORPHA:35687
Czeizel-Losonci Syndrome	Hypoplastic helices, Low-set, posteriorly rotated ears, Congenital megaureter, Ureteral agenesis,...	ORPHA:2437
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Glomerular sclerosis, Hypertension, Increased blood urea nitrogen, Abnor...	OMIM:223900
Small Cell Carcinoma Of The Bladder	Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria	ORPHA:284400
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Glycogen Storage Disease Iv	Abnormal circulating creatine kinase concentration, Bradycardia, Tubulointerstitial fibrosis, Car...	OMIM:232500
Vater/Vacterl Association	Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Ureteropelvic...	OMIM:192350
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrotia, Uplifted earlobe, Hydronephrosis, Micropenis, Self-mutilation, Aggressive behavior	ORPHA:364028
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Mildly elevated creatine kinase, Neonatal death, Bradycardia	OMIM:620265
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607731
Diaphanospondylodysostosis	Enlarged kidney, Polymicrogyria, Nephroblastomatosis, Low-set ears, Nephrogenic rest, Protuberant...	OMIM:608022
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Sensorineural hearing impairment, Esophagitis, Hydronephrosis, Feed...	ORPHA:541423
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Cerebral atrophy, Gastroesophageal reflux, Sensorineural hearing impair...	OMIM:608779
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Glutathionuria	Reduced tissue gamma-glutamyltransferase activity, Reduced gamma-glutamyltransferase level, Dysdi...	OMIM:231950
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Secretory diarrhea, Inflammation of the large intestine	OMIM:616868
Congenital Pancreatic Cyst	Anorexia, Abdominal distention, Vomiting, Abdominal pain	ORPHA:313906
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607677
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Recurrent otitis media, Microtia, Hearing impairment, Proteinuria, ...	ORPHA:2728
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymph node hypoplasia,...	OMIM:602450
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar...	ORPHA:3467
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Sensorineural hearing impairment, Vomiting, Congenital sensorineural hearing impairment, Mild pro...	OMIM:619147
Carpenter Syndrome 1	Optic atrophy, Cerebral atrophy, Hydroureter, Sensorineural hearing impairment, Abnormal pinna mo...	OMIM:201000
Tetrasomy 15Q26	Hydronephrosis, Low-set ears, Horseshoe kidney, Cupped ear	OMIM:614846
Peripartum Cardiomyopathy	Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart murmur, Myocarditis, Elevate...	ORPHA:563
Melnick-Needles Syndrome	Macrotia, Hydronephrosis, Recurrent otitis media, Ureteral stenosis	OMIM:309350
Craniofacial Microsomia 1	Ectopic kidney, Sensorineural hearing impairment, Microtia, Vesicoureteral reflux, Underdeveloped...	OMIM:164210
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner...	OMIM:620542
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Low-set ears, Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Alport Syndrome 1, X-Linked	Sensorineural hearing impairment, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular...	OMIM:301050
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia	OMIM:618637
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:620280
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Hematuria, Gastroesophageal reflux, Nasogastric tube feeding, Sensorineural hearing im...	ORPHA:1018
Mesomelia-Synostoses Syndrome	Hearing impairment, Hydronephrosis	ORPHA:2496
Acute Monoblastic/Monocytic Leukemia	Oliguria, Progressive hearing impairment, Anorexia	ORPHA:514
17Q12 Microdeletion Syndrome	Cerebral atrophy, Renal hypoplasia/aplasia, Renal insufficiency, Subcortical cerebral atrophy, Ur...	ORPHA:261265
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Cockayne Syndrome A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Renal insufficiency, Sensor...	OMIM:216400
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Chorea, Exaggerated startle response, Dystonia, Abnormal pyramidal sign, Neurod...	ORPHA:309246
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Pelizaeus-Merzbacher Disease	Global brain atrophy, Generalized dystonia, Writer's cramp, Cerebellar vermis atrophy, Tremor, In...	OMIM:312080
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Gliosis, Low-set ears, Cerebellar atrophy, Exaggerated startle response, Vomiting,...	OMIM:620451
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria	ORPHA:95626
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor, Weight loss	OMIM:613239
Pfeiffer Syndrome Type 3	Stenosis of the external auditory canal, Vesicoureteral reflux, Low-set ears, Hearing impairment,...	ORPHA:93260
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Branchioskeletogenital Syndrome	Mixed hearing impairment, Penoscrotal hypospadias, Attached earlobe, Ureteral stenosis, Bladder e...	ORPHA:1299
Liver Failure, Infantile, Transient	Abdominal distention, Dicarboxylic aciduria, Vomiting, Acute hepatic failure, 3-hydroxydicarboxyl...	OMIM:613070
Cockayne Syndrome B	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Renal insufficiency, Sensor...	OMIM:133540
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Bradycardia, Decreased circulating carnitine concentration, Cardiac arrest, Hypertr...	OMIM:618235
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria	OMIM:618387
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Hydronephrosis, Motor stereotypy, Attention...	OMIM:620141
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor...	OMIM:261640
Lipoyltransferase 1 Deficiency	Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Hyperprolinemia, Hypergl...	OMIM:616299
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Feeding difficulties in infancy, Renal ...	ORPHA:96169
Melnick-Needles Syndrome	Hearing impairment, Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Abnormal renal morphology, Low-set ears, Hydronephrosis, Micropenis, Hepati...	ORPHA:1655
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Sensorineural hearing impairment, Macrotia, Histidin...	OMIM:235830
Adiposis Dolorosa	Constipation, Abdominal distention	OMIM:103200
Primary Angiitis Of The Central Nervous System	Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis	ORPHA:140989
Monosomy 13Q34	Pulmonic stenosis, Obesity, Epistaxis, Hematochezia, Fetal pyelectasis, Hypercalcemia	ORPHA:96168
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Polyuria, Nephrolithiasis	OMIM:617994
Cataract 47	Glycosuria	OMIM:612018
Johanson-Blizzard Syndrome	Hypospadias, Hypoplasia of penis, Sensorineural hearing impairment, Hydronephrosis, Malabsorption...	ORPHA:2315
Frontometaphyseal Dysplasia	Mixed hearing impairment, Sensorineural hearing impairment, Hearing impairment, Conductive hearin...	ORPHA:1826
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor...	ORPHA:1170
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Portal hypertension, Asplenia, Aortic...	OMIM:208540
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Hypokalemic Periodic Paralysis	Paralysis, Periodic hypokalemic paresis, Respiratory paralysis	ORPHA:681
Trigeminal Neuralgia	Cranial nerve compression, CNS demyelination, Allodynia, Feeding difficulties, Peripheral demyeli...	ORPHA:221091
Hurler Syndrome	Recurrent otitis media, Abnormal CNS myelination, Dermatan sulfate excretion in urine, Hearing im...	OMIM:607014
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Tremor, Frequent falls, Myoclonus, Degeneration of anterior horn cells	OMIM:159950
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Diffuse...	ORPHA:363654
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Low-set ears, Hypospadias	OMIM:220210
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Restrictive cardiomyopat...	ORPHA:369837
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Renal tubular dys...	ORPHA:37553
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:615376
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circul...	ORPHA:54251
Glutaric Acidemia I	Glutaric aciduria, Symmetrical progressive peripheral demyelination, Delayed myelination, Dystoni...	OMIM:231670
Charcot-Marie-Tooth Disease Type 2B1	Axonal degeneration, Sensory axonal neuropathy, Decreased number of small peripheral myelinated n...	ORPHA:98856
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Junctional Epidermolysis Bullosa With Pyloric Atresia	Abdominal distention, Hematuria, Nausea and vomiting, Aplasia of the bladder, Ureterocele, Hydron...	ORPHA:79403
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Hepatomegaly, Abnormality of iron homeostasis, Proximal...	ORPHA:231222
Glucoglycinuria	Glycosuria, Hyperglycinuria	OMIM:138070
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Fai...	ORPHA:79128
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Diarrhea, Gliosis, Absent brainstem auditory responses, Vomiting, Head titubation, Diffuse cerebr...	ORPHA:3240
Tarp Syndrome	Optic atrophy, Microtia, Athetosis, Low-set ears, Hydronephrosis, Posteriorly rotated ears, Promi...	OMIM:311900
Wilson Disease	Abdominal distention, Increased urinary copper concentration, Decreased nerve conduction velocity...	OMIM:277900
Familial Isolated Hypoparathyroidism	Hypocalcemia, Abnormal dental enamel morphology, Nephropathy, Arrhythmia	ORPHA:2238
Primary Dystonia, Dyt2 Type	Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener...	ORPHA:99657
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Hypomagnesiuria, Hypocalciuria, Lipoma, Reduced ratio of ...	ORPHA:405
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypoglycemia, Diabetes mellitus, Am...	OMIM:616026
Zttk Syndrome	Optic atrophy, Polyuria, Unilateral renal agenesis, Chronic diarrhea, Low-set ears, Feeding diffi...	OMIM:617140
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El...	OMIM:617056
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced renal corticomed...	OMIM:603278
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears,...	ORPHA:35173
Trisomy 10P	Abnormality of the kidney, Gastroesophageal reflux, Low voltage EEG, EEG with focal spikes, Poor ...	ORPHA:171929
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Gliosis, Tremor, Low-set ears, Vomiting, CNS demyelination, Dystonia, Hyperglycemia,...	OMIM:220111
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Abdominal distention, Diarrhea, Low-set ears, Vomiting	OMIM:608104
Mucolipidosis Ii Alpha/Beta	Osteopenia, Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Inguin...	OMIM:252500
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive hearing ...	OMIM:616367
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Sensorineural hearing impairment, Dermatan sulfate excretion in urine, He...	OMIM:253220
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Renal agenesis, Conductive hearing ...	ORPHA:1297
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Brain atrophy, Tremor, Glycosuria, Malabsorption, Feeding difficulties, Delayed CNS myelination, ...	OMIM:616539
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Abnormal ...	OMIM:256600
3C Syndrome	Optic atrophy, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Low-set ears, Abnormali...	ORPHA:7
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma...	ORPHA:70594
Zaki Syndrome	Renal agenesis, Poor appetite, Hydronephrosis, Cupped ear	OMIM:619648
Albers-Schönberg Osteopetrosis	Generalized osteosclerosis, Abnormal leukocyte morphology, Anemia, Hypocalcemia	ORPHA:53
Mosaic Trisomy 8	Abnormal antihelix morphology, Abnormal pinna morphology, Vesicoureteral reflux, Hearing impairme...	ORPHA:96061
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Cerebral atrophy, Hyperkinetic movements, Abnormal circulating e...	ORPHA:391428
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Abnormal renal morphology, Abnormal pinna morphology, Decrea...	ORPHA:477817
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Cardiac arrest, Nephrotic syndrome, Weight loss, Eos...	ORPHA:139402
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Conductive hearing impairment, Hydronephrosis, ...	ORPHA:1225
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Pediatric-Onset Graves Disease	Polydipsia, Hyperactivity, Diarrhea, Tremor, Polyphagia, Nausea and vomiting	ORPHA:525731
ERI1-related disease	Vesicoureteral reflux, Low-set ears, Macrotia, Conductive hearing impairment, Hydronephrosis	OMIM:608739
Castleman Disease	Intestinal obstruction, Abdominal distention, Hematuria, Abdominal pain, Ureteral obstruction, Na...	ORPHA:160
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Mody	Abnormality of the kidney, Neonatal hypoglycemia, Hypoinsulinemia, Renal cyst, Glycosuria, Hyperg...	ORPHA:552
Trisomy 20P	Abnormality of the kidney, Hypospadias, Low-set, posteriorly rotated ears, Abnormal antihelix mor...	ORPHA:261318
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc...	ORPHA:99845
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gastroesophageal reflux, Abnormal bladder morphology, Abnormal helix morphology, Vesicoureteral r...	ORPHA:453499
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Babinski sign, Poor fine motor coordination, Vocal cord paralysis, Frequent falls, Postural tremo...	ORPHA:99947
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Bilateral renal agenesis, Low-set ears, Proteinuria	OMIM:191830
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Renal insufficiency, Hy...	ORPHA:330001
Sepsis In Premature Infants	Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Bradycardia, Oliguri...	ORPHA:90051
Glioblastoma	Paralysis, Glioblastoma multiforme	ORPHA:360
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Genitopatellar Syndrome	Gastroesophageal reflux, Low-set ears, Hearing impairment, Hydronephrosis, Feeding difficulties, ...	ORPHA:85201
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Episodic vomiting, Abdominal pain, Hearing impairment, Secreto...	OMIM:619377
Trisomy 1Q	Congenital megaureter, Low-set ears, Hydronephrosis, Abnormality of the outer ear, Multicystic ki...	ORPHA:261344
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Cerebellar atrophy, Gait ataxia, Rigidity, Dysmetria	OMIM:618090
Wolman Disease	Vomiting, Abdominal distention, Acute hepatic failure	OMIM:620151
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Polyuria, Medullary nephrocalcinosis	OMIM:300971
Takenouchi-Kosaki Syndrome	Optic atrophy, Unilateral renal agenesis, Hypospadias, Sensorineural hearing impairment, Low-set ...	OMIM:616737
Hsd10 Disease	Frontotemporal cerebral atrophy, Tremor, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreo...	ORPHA:391417
Noonan Syndrome 4	Ureteral duplication, Low-set ears, Hydronephrosis, Posteriorly rotated ears, Thickened helices	OMIM:610733
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Low-set ears, Hydronephrosis, Posteriorly rotated ears, Large fleshy ears, Micropenis	OMIM:616897
Developmental And Epileptic Encephalopathy 46	Cerebral atrophy, Failure to thrive, Tremor, Limb hypertonia	OMIM:617162
Neurodegeneration With Brain Iron Accumulation 4	Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrapyramidal motor ...	OMIM:614298
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Pontocerebellar atrophy, Hydronephrosis, Tremor, Chronic constipation	OMIM:618060
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Schimke Immuno-Osseous Dysplasia	Abdominal distention, Minimal change glomerulonephritis, Nephrotic range proteinuria, Focal segme...	ORPHA:1830
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Sensorineural hearing impairment, Thickened glomerular basement membrane, Glomerular basement mem...	OMIM:609057
Desmoid Tumor	Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the upper uri...	ORPHA:873
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Atresia Of Urethra	Abdominal distention, Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder,...	ORPHA:105
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Hypercalcemia, Hydroxyprolinuria, Sclerosis of skull base, Osteolysis	OMIM:602080
Duane-Radial Ray Syndrome	Aganglionic megacolon, Sensorineural hearing impairment, Vesicoureteral reflux, Facial palsy, Ren...	OMIM:607323
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Cerebral atrophy, Hypospadias, Gastroesophageal reflux, Sensorineural hearing impairment, Microti...	OMIM:301040
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Hypomethioninemia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cyst...	OMIM:277400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia, Myoglobinuria, Sensorineural hearing ...	OMIM:616878
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Chronic Diarrhea Due To Glucoamylase Deficiency	Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption	ORPHA:103907
Melas	Optic atrophy, Intestinal pseudo-obstruction, Diarrhea, Sensorineural hearing impairment, Proxima...	ORPHA:550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination, Intention tremor, Cerebral cortical atrophy, Hypoglycemia, Abnormalit...	ORPHA:48431
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Ureteral agenesis, Ureteral dysgenesis	OMIM:274265
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Reduced alpha-methylacyl-CoA racemase ...	OMIM:614307
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hypertension, Renal artery stenosis, Renal hyp...	OMIM:617913
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy	OMIM:166300
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Ketonuria	ORPHA:2089
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells...	ORPHA:276
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion ...	ORPHA:543
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Spinocerebellar Ataxia, Autosomal Recessive 13	Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dys...	OMIM:614831
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopath...	OMIM:618815
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Hyp...	ORPHA:653
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Failure to thr...	OMIM:612561
Hypermanganesemia With Dystonia 1	Bradykinesia, Decreased liver function, Elevated circulating hepatic transaminase concentration, ...	OMIM:613280
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Cachexia, Hematochezia, Hypomagnesemia	OMIM:175500
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, EEG with spike-wave complexes, EEG with polyspike wave complexes, Cerebral...	ORPHA:247262
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased sensory nerve conduction velocity, Cerebellar vermis atrophy, Urinary urgency, Decrease...	OMIM:270550
Feingold Syndrome Type 1	Abnormality of the kidney, Sensorineural hearing impairment, Vesicoureteral reflux, Conductive he...	ORPHA:391641
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Joint contracture, Prolonged QT interval, Elevated circulating creatine kinase concentration	OMIM:615351
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Nephrolithiasis, Functional abnorma...	ORPHA:2953
Cardiofaciocutaneous Syndrome 1	Optic nerve dysplasia, Tongue thrusting, Gastroesophageal reflux, Peripheral axonal neuropathy, L...	OMIM:115150
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Donnai-Barrow Syndrome	Sensorineural hearing impairment, Low-set ears, Hearing impairment, Non-acidotic proximal tubulop...	OMIM:222448
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Acute hepatic f...	ORPHA:254881
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Glycosylphosphatidylinositol Biosynthesis Defect 15	Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Dysmetria	OMIM:617810
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia	OMIM:617836
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased liver function, Decreased nerve conduction velocity, Sensorineural heari...	OMIM:614863
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sensorineural hearing impairment, Vesicoureteral reflux, Renal cyst, Renal ...	OMIM:618460
Necrotizing Enterocolitis	Shock, Bradycardia, Leukocytosis, Hypotension, Hyponatremia, Thrombocytopenia, Small for gestatio...	ORPHA:391673
Codas Syndrome	Sensorineural hearing impairment, Crumpled ear, Hydroureter, Overfolded helix	ORPHA:1458
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Cerebellar atrophy, Gait ataxia	ORPHA:438134
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Duplicated collecting system, Sensorineural hearing impairment, Hydrone...	OMIM:617093
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Meckel Syndrome 14	Abdominal distention, Polycystic kidney dysplasia, Low-set ears, Protuberant abdomen	OMIM:619879
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Low-set ears, Constipation, Hydronephrosis, Dysphagia	ORPHA:101000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Renal cyst, Multinucleated neuron, Renal hypoplasia, Ureteral agenesis, Renal dyspl...	OMIM:236500
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign	OMIM:612016
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund...	ORPHA:439232
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
2P21 Microdeletion Syndrome	Hypocalcemia, Failure to thrive, Nephrolithiasis, Cystinuria	ORPHA:163693
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal adipose tissue morphology, Hypocalcemia, Bone cyst, Abnormal bone structure, Nephrolithi...	ORPHA:93160
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i...	ORPHA:35122
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Chromosome 17Q12 Deletion Syndrome	Protruding ear, Unilateral renal agenesis, Recurrent urinary tract infections, Bilateral sensorin...	OMIM:614527
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Cerebral atrophy, Truncal ataxia, Spasticity, Tremor, Ga...	OMIM:618877
Caudal Regression Syndrome	Ureteral duplication, Maternal diabetes, Ectopic kidney, Vesicoureteral reflux, Impulsivity, Abno...	ORPHA:3027
Leukodystrophy, Hypomyelinating, 6	Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath...	OMIM:612438
7Q11.23 Microduplication Syndrome	Chronic otitis media, Unilateral renal agenesis, Hypospadias, Abnormal earlobe morphology, Low-se...	ORPHA:96121
Dilated Cardiomyopathy With Ataxia	3-Methylglutaconic aciduria, Hypochromic microcytic anemia, Prolonged QT interval, Hypoplasia of ...	ORPHA:66634
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Galloway-Mowat Syndrome 1	Optic atrophy, Cerebral atrophy, Low-set ears, Cerebellar atrophy, Focal segmental glomeruloscler...	OMIM:251300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Hyperactivity, Sensorineural hearing impairment, Vesicoureteral reflux, Low-set e...	OMIM:235510
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Wagro Syndrome	Agitation, Low-set ears, Compulsive behaviors, Polyphagia, Proteinuria, Nephroblastoma, Aggressiv...	OMIM:612469
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Sensorineural hearing impairment, Nephrolithiasis, Renal tubular acidosis	OMIM:267300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Brain-Lung-Thyroid Syndrome	Hypospadias, Hyperactivity, Sensorineural hearing impairment, Vesicoureteral reflux, Compulsive b...	ORPHA:209905
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypospadias, Gastroesophageal reflux, Low-set ears, Constipation, Uplifted earl...	OMIM:616449
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Severe Neurodegenerative Syndrome With Lipodystrophy	Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Poor motor coordin...	ORPHA:363400
Xfe Progeroid Syndrome	Hearing impairment, Optic atrophy, Renal insufficiency, Proteinuria	OMIM:610965
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency	ORPHA:375
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Spasticity, Tremor, Gliosis, Truncal obesity, Small for gestational age, ...	OMIM:300957
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ...	OMIM:137440
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Generalized lymphade...	ORPHA:829
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive, Hyperammonemia, Car...	OMIM:614702
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Cerebral corti...	ORPHA:2842
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Fibrous Dysplasia Of Bone	Rickets, Abnormal bone structure, Cortical irregularity, Hypercalcemia, Hypophosphatemia, Osteoly...	ORPHA:249
Whipple Disease	Polydipsia, Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Malabsorption, Insul...	ORPHA:3452
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Tangier Disease	Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination	OMIM:205400
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic...	OMIM:300555
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop...	OMIM:613839
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Osteoporosis, B...	OMIM:127550
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Silver-Russell Syndrome 1	Hypospadias, Fasting hypoglycemia, Abnormality of the ureter, Urethral valve, Congenital posterio...	OMIM:180860
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he...	OMIM:618188
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Frontotemporal cerebral atrophy, Global brai...	OMIM:612953
Pendred Syndrome	Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation	OMIM:274600
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Abdominal pain, Proteinuria, Helicobacter pylori ...	ORPHA:275555
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Babinski sign, Hypertonia, Tremor, Cerebellar atrophy, Gait ataxia, Intention tremor, Ataxia, Myo...	OMIM:616505
Congenital Disorder Of Glycosylation, Type Iiw	Recurrent otitis media, Gastroesophageal reflux, Low-set ears, Microscopic hematuria, Vomiting, M...	OMIM:619525
Diffuse Alveolar Hemorrhage	Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Weight loss, Elevated circulating...	ORPHA:90060
Peho Syndrome	Optic atrophy, Hypsarrhythmia, Undetectable visual evoked potentials, Polymicrogyria, Neuronal lo...	OMIM:260565
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism	OMIM:618049
Monosomy 22Q13.3	Cerebellar cortical atrophy, Hair-pulling, Gastroesophageal reflux, Hyperactivity, Nausea and vom...	ORPHA:48652
Cat Eye Syndrome	Stenosis of the external auditory canal, Vesicoureteral reflux, Low-set ears, Renal agenesis, Hea...	OMIM:115470
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Decreased number of periphera...	OMIM:607250
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Protruding ear, Macrotia, EEG abnormality, Abnormality of the ureter	ORPHA:3253
Intellectual Disability, Buenos-Aires Type	Macrotia, Hydronephrosis	ORPHA:3079
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Kenny-Caffey Syndrome, Type 1	Anemia, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Hypomagnesemia	OMIM:244460
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Cerebellar atrophy, Hydronephrosis, Feeding difficulties, Self-injurio...	OMIM:620511
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormal cortical gyration, Low-set ears, Hearing impairment, Hydronephrosis, Posteriorly rotated...	OMIM:300968
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Abnormal pinna morphology, Microtia, Decreased numbers of nephrons, Thickened hel...	OMIM:617641
Peroxisome Biogenesis Disorder 5B	Decreased liver function, Oculomotor apraxia, Tremor, Cerebellar atrophy, Ataxia, Dysmetria	OMIM:614867
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Generalized dystonia, Scis...	OMIM:617013
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive...	ORPHA:97292
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:610725
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Lac...	ORPHA:699
Fabry Disease	Urinary mulberry cells, Diarrhea, Abdominal pain, Abnormal autonomic nervous system physiology, V...	OMIM:301500
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,...	OMIM:601198
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Wolcott-Rallison Syndrome	Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body weight, H...	ORPHA:1667
Hoxha-Aliu Syndrome	Vesicoureteral reflux, Low-set ears, Uplifted earlobe, Hydronephrosis, Posteriorly rotated ears, ...	OMIM:620662
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, ...	ORPHA:95717
Behr Syndrome	Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Progressive spasticity, Cerebel...	OMIM:210000
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Microscopic hematuria, Hearing impairment, Proteinuria, Renal insufficiency	ORPHA:86818
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Abdominal pain, Vomiting, Nausea, Diabetes mellitus	ORPHA:90003
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Deafness, Autosomal Dominant 77	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Gastroesophageal reflux, Brain atrophy, Exaggerated startle response, Hearing impairment, Feeding...	OMIM:620114
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Low-set ears, Exaggerated startle response, Hea...	ORPHA:79255
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Renal insufficiency, Sensorineural hearing impairment, Peripheral axonal neuropathy,...	OMIM:300661
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, Vesicoureteral reflux, Low-set ears, Hydronephrosis, Feeding difficulties, Motor s...	OMIM:618653
Distal Deletion 10Q	Acute kidney injury, Vesicoureteral reflux, Low-set ears, Cochlear malformation, Enuresis, Facial...	ORPHA:96148
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Normochromic anemia, Hypercalcemia, Weight loss, Subcu...	ORPHA:97280
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased glomerular filtra...	ORPHA:85450
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Neurodegeneration With Brain Iron Accumulation 2B	Bradykinesia, Babinski sign, Hypertonia, Cerebral atrophy, Chorea, Spasticity, Dysdiadochokinesis...	OMIM:610217
Non-Specific Early-Onset Epileptic Encephalopathy	Cerebral atrophy, Limb hypertonia, Brain atrophy, Spasticity, Tremor, Involuntary movements, Fail...	ORPHA:442835
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Pelvic kidney, Renal cyst, Atten...	ORPHA:464311
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Tremor, Cerebellar atrophy, Ataxia, Spastic ataxia, Abnormal pyramid...	OMIM:616795
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Hypochromic microcytic anemia, Hypercalcemia, Weight l...	ORPHA:97283
Koolen-De Vries Syndrome	Hyperactivity, Recurrent urinary tract infections, Vesicoureteral reflux, Anteverted ears, Gray m...	OMIM:610443
Neuroblastoma	Abdominal distention, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic aci...	ORPHA:635
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma...	ORPHA:90646
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Familial Mediterranean Fever, Autosomal Dominant	Abdominal pain, Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Posterolateral diaphragmatic hernia, Hypertensi...	OMIM:194080
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Pyruvate Dehydrogenase E2 Deficiency	Babinski sign, Hypertonia, Paroxysmal dystonia, Abnormal circulating enzyme concentration or acti...	ORPHA:79244
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ...	ORPHA:240085
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Ddost-Cdg	Gastroesophageal reflux, Nephrotic range proteinuria, Tremor, Constipation, CNS hypomyelination	ORPHA:300536
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Babinski sign, Tremor, Failure to thrive	ORPHA:477673
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Neuronal loss in central nervous system, Tremor, Rigidity, Dystonia...	OMIM:168600
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Failure to thrive, Thrombocytosis, Hypochromic anemia	OMIM:618213
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, Chorea, Tremor, Cerebellar ...	OMIM:208920
Athyreosis	Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
Autoinflammatory-Pancytopenia Syndrome	Intestinal inflammation, Chronic diarrhea, Proteinuria, Membranoproliferative glomerulonephritis,...	OMIM:619858
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Normochromic anemia, Bradycardia, Elevated circulating creatine kin...	OMIM:618775
Microvillus Inclusion Disease	Diarrhea, Abdominal distention, Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Renal tubular epithelial necrosis, Hydroureter, Duplicated collect...	ORPHA:79404
Ogden Syndrome	Enlarged kidney, Iron deficiency anemia, Inguinal hernia, Polycystic kidney dysplasia, Hyperbilir...	OMIM:300855
Alagille Syndrome	Nephrotic syndrome, Protruding ear, Renal hypoplasia/aplasia, Abnormality of the ureter	ORPHA:52
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ...	ORPHA:79139
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Renal tubular acidosis, Hypocalcemia, Nephroli...	ORPHA:2785
Agel Amyloidosis	Facial palsy, Hearing impairment, Proteinuria, Orthostatic hypotension due to autonomic dysfuncti...	ORPHA:85448
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Intellectual Developmental Disorder, Autosomal Dominant 53	Microtia, Hydronephrosis, Gastrointestinal dysmotility, EEG abnormality, Micropenis	OMIM:617798
Fabry Disease	Abnormal renal tubule morphology, Anorexia, Glomerulopathy, Optic atrophy, Hematuria, Sensorineur...	ORPHA:324
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple re...	ORPHA:116
Shwachman-Diamond Syndrome	Aplastic anemia, Osteopenia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Mac...	ORPHA:811
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Osteopor...	OMIM:612562
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Cerebral cortical atrophy, Dystonia, Ataxi...	OMIM:607694
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Hypotension, Leukocytosis, Pericarditis, Weight lo...	ORPHA:188
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Low-set, posteriorly rotated ears, Abnormality of the ureter	ORPHA:2311
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Sensorineural hearing impairment, Vesicou...	DECIPHER:81
1Q21.1 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Hydronephrosis, Vesic...	ORPHA:250989
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst	OMIM:613390
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h...	OMIM:300908
Aicardi-Goutieres Syndrome 9	Optic atrophy, Cerebral atrophy, Glomerular sclerosis, Recurrent urinary tract infections, Thicke...	OMIM:619487
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Pr...	OMIM:212138
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Galloway-Mowat Syndrome 3	Cerebral atrophy, Glomerular sclerosis, Low-set ears, Cerebellar atrophy, Nephrotic syndrome, Dif...	OMIM:617729
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia	OMIM:145980
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye...	ORPHA:457077
Barth Syndrome	Congestive heart failure, 3-Methylglutaconic aciduria, Hypochromic microcytic anemia, Tricuspid r...	OMIM:302060
Gracile Bone Dysplasia	Hypocalcemia, Decreased skull ossification, Asplenia, Failure to thrive, Hypoplastic spleen, Micr...	OMIM:602361
Cerebrotendinous Xanthomatosis	Optic atrophy, Agitation, Decreased nerve conduction velocity, Global brain atrophy, Axonal degen...	ORPHA:909
Qazi-Markouizos Syndrome	Abdominal distention, EEG abnormality, Torticollis, Chronic constipation	ORPHA:3010
Martin-Probst Syndrome	Renal insufficiency, Sensorineural hearing impairment, Low-set ears, Chordee, Proteinuria, Microp...	OMIM:300519
Fryns Syndrome	Aganglionic megacolon, Hypospadias, Low-set, posteriorly rotated ears, Gastroesophageal reflux, V...	ORPHA:2059
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Abdominal pain, Focal segmental glomerulosclerosis, Proteinuri...	ORPHA:656
Autosomal Dominant Hypocalcemia	Congestive heart failure, Reduced bone mineral density, Hypercalciuria, Hypocalcemia, Hypotension...	ORPHA:428
Au-Kline Syndrome	Gastroesophageal reflux, Sensorineural hearing impairment, Microtia, Vesicoureteral reflux, Const...	OMIM:616580
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my...	OMIM:607831
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnorm...	ORPHA:466650
Vacterl/Vater Association	Ectopic kidney, Hypospadias, Hypoplasia of penis, Low-set, posteriorly rotated ears, Renal agenes...	ORPHA:887
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Recurrent infection of the gastrointestinal tract, Posteriorly rotated...	OMIM:301110
Floating-Harbor Syndrome	Cochlear malformation, Impulsivity, Nephrocalcinosis, Congenital posterior urethral valve, Stage ...	ORPHA:2044
Leprechaunism	Abdominal distention, Enlarged kidney, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Hyperc...	ORPHA:508
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Free Sialic Acid Storage Disease	Nephrotic syndrome, Athetosis, Proteinuria	ORPHA:834
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Cerebral atrophy, Babinski sign, Abnormal astrocyte morphology, Tremor, Spastic paraplegia	ORPHA:83629
Snakebite Envenomation	Paralysis, Pseudobulbar paralysis, Thrombocytopenia, Respiratory paralysis	ORPHA:449285
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Cornelia De Lange Syndrome 1	Optic atrophy, Ectopic kidney, Hypospadias, Gastroesophageal reflux, Abnormal renal morphology, S...	OMIM:122470
4H Leukodystrophy	Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf...	ORPHA:289494
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re...	ORPHA:2237
Bone Marrow Failure Syndrome 3	Aplastic anemia, Amelogenesis imperfecta, Reduced bone mineral density, Anemia, Acute myeloid leu...	OMIM:617052
Hereditary Fructose Intolerance	Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti...	ORPHA:469
Eisenmenger Syndrome	Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure, Suprave...	ORPHA:97214
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss	ORPHA:178509
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Polysplenia, Omphalocele, Craniosynostosis, Cystic renal dysplasia	OMIM:200995
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Schinzel-Giedion Syndrome	Aganglionic megacolon, Hypospadias, Hypsarrhythmia, Abnormal helix morphology, Abnormal cochlea m...	ORPHA:798
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Polymicrogyria, Subcortical cerebral atrophy, Abnormality of the upper urinary tract...	ORPHA:2995
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Prolonged QT interval, Decreased circulating carnitine concentration, Myog...	ORPHA:71212
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,...	ORPHA:95427
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela...	OMIM:619774
Toxin-Mediated Infectious Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:230800
Cerebrooculofacioskeletal Syndrome 1	Brain atrophy, Gliosis, Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Neurodeg...	OMIM:214150
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Low-set ears, Hydronephrosis	OMIM:104350
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Generalized dystonia, Pancytopenia, Chorea, Gliosis, Gait ataxia, Dystonia, Ata...	OMIM:618321
Acute Promyelocytic Leukemia	Anemia, Hematuria, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Wei...	ORPHA:520
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Microtia, Vesicoureteral reflux, Low-set ears, Macrotia, Hydronephrosis, Posteriorly rotated ears	OMIM:620663
Frontometaphyseal Dysplasia 1	Hearing impairment, Sensorineural hearing impairment, Hydronephrosis, Hydroureter	OMIM:305620
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly, Portal hypertension	OMIM:620367
Ethylene Glycol Poisoning	Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Prolonged QT interval,...	ORPHA:31826
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Hyperactivity, Pelvic kidney, Re...	ORPHA:464306
Chondrodysplasia Punctata 2, X-Linked Dominant	Hearing impairment, Abnormal pinna morphology, Hydronephrosis	OMIM:302960
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Sensorineural hearing impairment, Uric acid nephrolithi...	ORPHA:411543
Coronary Arterial Fistula	Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Elevated jugular venous pre...	ORPHA:2041
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Spastic paraplegia, O...	OMIM:300055
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Knee flexion contracture, Cardiomyopathy, Elevated circulating creatine...	OMIM:310200
Cholera	Acute kidney injury, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hypovolemic sho...	ORPHA:173
Glutamine Deficiency, Congenital	Bradycardia, Camptodactyly, Hyperammonemia, Neonatal death, Flexion contracture, Hypoglutaminemia	OMIM:610015
X-Linked Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ...	ORPHA:53351
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Thrombocytopenia, Leukocytosis	ORPHA:83601
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Hepatomegaly, Anemia,...	OMIM:251110
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Tarp Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Small earlobe, H...	ORPHA:2886
Diarrhea 12, With Microvillus Atrophy	Vomiting, Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea	OMIM:619445
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Tremor, Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reducta...	OMIM:250800
Eec Syndrome	Renal hypoplasia/aplasia, Hypospadias, Abnormality of the inner ear, Sensorineural hearing impair...	ORPHA:1896
Cinca Syndrome	Reduced bone mineral density, Anemia, Hepatomegaly, Elevated circulating C-reactive protein conce...	ORPHA:1451
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p...	OMIM:608768
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R...	ORPHA:3337
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc...	OMIM:264700
Vipoma	Hepatomegaly, Hypokalemia, Normochromic anemia, Hypercalcemia, Weight loss, Subcutaneous lipoma	ORPHA:97282
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Macrotia, Hydronephrosis, Micropenis, Attention deficit hyperactivity disorder, Abno...	ORPHA:96092
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar vermis at...	ORPHA:98773
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Thyrotoxic Periodic Paralysis	Hyperkalemia, Prolonged QT interval, Transient hypophosphatemia, Urinary retention, Episodic hypo...	ORPHA:79102
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Chronic axonal neuropathy, Demyelinating peripheral neuropat...	ORPHA:99948
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Low-set ears	ORPHA:85166
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Homocystinuria, Increased mean corpuscular volume, Hyperhomocystinemia, M...	OMIM:277410
Peutz-Jeghers Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abdominal pain...	ORPHA:2869
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Hypospadias, Hyperactivity, Polymicrogyria, Lactose intolerance, Protubera...	ORPHA:457485
Atrial Standstill 2	Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, P...	OMIM:615745
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebral atrophy, Hypertonia, Limb hypertonia, Tremor, Athetosis, Cerebellar atrophy, Dystonia, A...	OMIM:617710
Endove Syndrome, Limb-Brain Type	Gastrojejunal tube feeding in infancy, Recurrent urinary tract infections, Neurogenic bladder, Hy...	OMIM:619218
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebral atrophy, Babinski sign, Hypertonia, Progressive cerebellar ataxia, Truncal ataxia, Poor ...	ORPHA:137898
Webb-Dattani Syndrome	Gastroesophageal reflux, Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Hydronephrosis...	OMIM:615926
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, Hypotension, H...	ORPHA:292
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria	ORPHA:839
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Renal hypoplasia, Sensorineural hearing impairment, Vesicoureteral reflux, Incomplete partition o...	OMIM:617660
Denys-Drash Syndrome	Nephrotic syndrome, Nephroblastoma, Proteinuria, Nephropathy	ORPHA:220
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort...	ORPHA:93324
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Brain atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:619092
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res...	OMIM:606693
Arthrogryposis, Distal, Type 2A	Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials, Feeding difficulties...	OMIM:193700
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Cardiomegaly, Third h...	ORPHA:1329
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephropathy, Cerebellar atrophy, Focal segmental glomerulosclerosis, Intention tr...	OMIM:254900
White-Kernohan Syndrome	Recurrent otitis media, Hydroureter, Gastroesophageal reflux, Low-set ears, Macrotia, Hydronephro...	OMIM:619426
Microcephaly 26, Primary, Autosomal Dominant	Stereotypical hand wringing, Hydronephrosis, Simplified gyral pattern, Chronic constipation, Feed...	OMIM:619179
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Pelvic kidney, Lop ear, Vesicoureteral reflux, Low-set ears, Hydronephrosis, Crossed...	OMIM:300707
Xq21 Microdeletion Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine...	ORPHA:1435
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Charge Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Gastroesophageal reflux, Abnormality of the inn...	ORPHA:138
Spinocerebellar Ataxia Type 27	Limb ataxia, Truncal ataxia, Tremor, Cerebellar atrophy, Gait ataxia, Hand tremor	ORPHA:98764
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Ureteral duplication, Macrotia, Inappropriate laughter, Duplication of renal pelvis, Hand tremor,...	ORPHA:457212
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Bilateral renal agenesis, Microlissencephaly, Renal hypoplasia, Ureteral ...	OMIM:617914
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Gastroparesis, Episodic vomiting, Sensorineural hearing impairment...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Gastroparesis, Episodic vomiting, Sensorineural hearing impairment...	ORPHA:352665
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney, Malabsorption	ORPHA:634
Raine Syndrome	Mixed hearing impairment, Hydroureter, Abnormal pinna morphology, Low-set ears, Hydronephrosis, P...	OMIM:259775
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Gastroesophageal reflux, Abdominal pain, Abnormality of the middle ear,...	ORPHA:2092
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Urinary incontinence, Hypercalcemia	ORPHA:476126
Campomelic Dysplasia	Hearing impairment, Hydronephrosis, Low-set ears	ORPHA:140
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Hypertension, Cerebral ischemia, P...	ORPHA:904
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Enlarged kidney, Inguinal hernia, Chronic neutropenia, Camptodactyly, ...	ORPHA:500095
Cardiofaciocutaneous Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Functional abnormality of the gastrointestinal ...	ORPHA:1340
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Spasticity, Tremor, Failure to thrive, A...	ORPHA:100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f...	OMIM:174000
Pelvis-Shoulder Dysplasia	Microtia, Abnormal pinna morphology, Hydronephrosis	ORPHA:2839
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive, Hypophosphatemia, Spar...	OMIM:600081
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia	OMIM:614654
O'Sullivan-Mcleod Syndrome	Fasciculations, Eosinophilia, Tremor, Atrophy of the spinal cord	ORPHA:99965
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Opsismodysplasia	Low-set ears, Posteriorly rotated ears, Protuberant abdomen, Renal phosphate wasting	OMIM:258480
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Feeding difficulties	OMIM:617219
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Hyperoxaluria, Sensorineural hearing impairment, Renal cyst, Leukodystrophy	OMIM:601539
X-Linked Adrenoleukodystrophy	Paralysis, Incoordination, Paraparesis, Hemiparesis, Progressive spastic paraparesis, Clumsiness	ORPHA:43
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Feeding difficulties	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Feeding difficulties	ORPHA:529799
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Protuberant abdomen	OMIM:617102
Nail-Patella Syndrome	Hematuria, Sensorineural hearing impairment, Nephrotic syndrome, Proteinuria, Renal insufficiency...	OMIM:161200
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Spasticity, Corpus callosum atrophy, Spastic paraplegia, Cere...	OMIM:616586
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy...	OMIM:619155
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Glycosuria, Nephritis, Hyp...	ORPHA:2298
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Vasculiti...	ORPHA:3261
Multiple Endocrine Neoplasia Type 1	Hematemesis, Reduced bone mineral density, Melena, Hypercalciuria, Hypertension, Nephrolithiasis,...	ORPHA:652
Cockayne Syndrome	Urinary incontinence, Cerebral dysmyelination, Demyelinating peripheral neuropathy, Cerebellar at...	ORPHA:191
Distal Deletion 12Q	Obsessive-compulsive trait, Maturity-onset diabetes of the young, Ectopic kidney, Hyperactivity, ...	ORPHA:96149
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Cach...	ORPHA:77297
Pseudohypoparathyroidism, Type Ic	Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Osteoporosis, Enamel hypopla...	OMIM:612462
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein conce...	ORPHA:50918
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Enlarged kidney, Abnormality of the lymphatic system, Telangiectasia of the skin, Ne...	ORPHA:276280
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cardiomyo...	OMIM:615895
Cousin Syndrome	Stenosis of the external auditory canal, Low-set ears, Hearing impairment, Microtia, first degree...	OMIM:260660
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia,...	OMIM:128100
Double Outlet Right Ventricle	Hypocalcemia, Pulmonic stenosis, Failure to thrive, Heart murmur, Tachycardia, Aplasia/Hypoplasia...	ORPHA:3426
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:618348
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux	OMIM:618265
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607060
Mirizzi Syndrome	Anorexia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Dark urine, Abdominal colic	ORPHA:521219
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hematochezia, Hypoal...	ORPHA:2070
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr...	ORPHA:99750
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Acute kidney injury, Hyperkalemia, Decreased urine output, Hypocalcemia, Anuria, Hyp...	ORPHA:544482
Volvulus Of Midgut	Constipation, Abdominal distention, Neonatal intestinal obstruction	OMIM:193250
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Chronic diarrhea, Vomiting, Hydronephrosis, Hypoglycemia	OMIM:614921
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Protuberant abdomen, Nephrotic syndrome, Proteinuria, Stage 5...	OMIM:242900
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Abnormal cortical gyration, Cerebellar cortical atrophy, Low-set, posteriorly rota...	ORPHA:521426
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Nephrolithiasis, Failure to thrive, Cystine crystalluria, Cystinuria	OMIM:606407
Tay-Sachs Disease	Global brain atrophy, Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Tremor,...	ORPHA:845
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypospadias, Low-set ears, Constipation, Hydronephrosis, Male urethral meatus s...	ORPHA:464738
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Combined Oxidative Phosphorylation Deficiency 24	Neuronal loss in central nervous system, Spasticity, Gliosis, Cerebellar atrophy, Neurodegeneration	OMIM:616239
Stromme Syndrome	Optic nerve hypoplasia, Hydronephrosis, Low-set ears, Bilateral renal hypoplasia	OMIM:243605
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperammonemia, Arrhyt...	ORPHA:480864
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Astrocytosis, Decreased body weight, Pontocerebellar atrophy	ORPHA:258
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Low-set ears, Renal hypoplasia	OMIM:616258
Sickle Cell Disease	Hepatomegaly, Hematuria, Hypertension, Splenic infarction, Leukocytosis, Target cells, Splenomega...	OMIM:603903
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Hypertension, Epistaxis, Oliguria, Elevated ci...	ORPHA:340
Amyloidosis, Finnish Type	Orthostatic hypotension, Optic neuropathy, Nephrotic syndrome, Urolithiasis, Renal glomerular amy...	OMIM:105120
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abdominal distention, Hydroureter, Hypoperistalsis, Nausea and vomiting, Megacystis, Multicystic ...	ORPHA:2241
Sandhoff Disease	Urinary incontinence, Orthostatic hypotension, Chronic diarrhea, Episodic abdominal pain, Exagger...	OMIM:268800
Pseudo-Torch Syndrome 2	Hepatomegaly, Bradycardia, Abnormal renal corticomedullary differentiation, Thrombocytopenia, Cer...	OMIM:617397
Opitz Gbbb Syndrome	Hypospadias, Vesicoureteral reflux, Low-set ears, Hearing impairment, Hydronephrosis, Posteriorly...	ORPHA:2745
Alg9-Cdg	Cerebral atrophy, Enlarged kidney, Low-set, posteriorly rotated ears, Torticollis, Gastroesophage...	ORPHA:79328
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Abdominal p...	ORPHA:91138
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Neonatal death, Hydronephrosis, Urethral atresia	OMIM:314390
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality...	ORPHA:79330
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Gastroesophageal reflux, Hyperactivity, Recurrent ur...	ORPHA:353281
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis	OMIM:146200
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Hypocalcemia, Cardiomyopathy, Tricuspid regurgitation, Left ventricular...	ORPHA:746
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Obesity, Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia	OMIM:603233
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea...	OMIM:614376
Bohring-Opitz Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Low-set ears, Gray matter heterotopia, Posteriorl...	OMIM:605039
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Dysphag...	ORPHA:368
Marburg Hemorrhagic Fever	Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia, Leukopenia, Lymphopenia, Elevated cir...	ORPHA:99826
Small Bowel Atresia	Vomiting, Abdominal distention, Feeding difficulties	ORPHA:1201
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Gliosis, Tremor, Upper limb spasticity, Overweight	ORPHA:457240
Progressive Supranuclear Palsy	Bradykinesia, Neuronal loss in central nervous system, Gliosis, Tremor, Blepharospasm, Cerebral c...	ORPHA:683
Spinal Cord Injury	Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction	ORPHA:90058
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Abnormality of extrapyramidal motor func...	OMIM:615673
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Increased level of L-fucose in urine	OMIM:215600
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Tremor, Ataxia, Splenomegaly, Leukopenia, Impaired neutrophil...	OMIM:214500
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Cellulitis, Neutrophilia	OMIM:266265
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Stage 5 chronic kidney di...	ORPHA:650
Occipital Horn Syndrome	Orthostatic hypotension, Chronic diarrhea, Ureteral obstruction, Hydronephrosis, Bladder divertic...	OMIM:304150
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Glomerulopathy, Hematuria, Gastroesophageal reflux, Abdominal pain, Centr...	ORPHA:183
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis, Hemolytic anemia	OMIM:612300
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Recurrent otitis media, Hypospadias, Interictal epileptiform activity, Recurrent u...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Recurrent otitis media, Hypospadias, Interictal epileptiform activity, Recurrent u...	ORPHA:363958
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Gray matter heterotopia, Gastrointestinal dysmotility	ORPHA:531151
Alternating Hemiplegia Of Childhood	Anorexia, Abdominal distention, Oral-pharyngeal dysphagia, Diarrhea, Tremor, Abnormal autonomic n...	ORPHA:2131
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the thymus, Hypercalcemia, Weight loss, Su...	ORPHA:97261
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Leukocytosis, Hy...	ORPHA:319213
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Tubular basement membrane disintegration, Sensorineural hearing impairment, Ren...	OMIM:613159
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Sensorineural hearing impairment, Hyperphosphaturia, Malabsorption, Abno...	ORPHA:289176
Pseudohypoparathyroidism Type 1A	Calcinosis, Reduced bone mineral density, Prolonged QT interval, Low urinary cyclic AMP response ...	ORPHA:79443
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A...	ORPHA:352649
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Heart block, Anemia, Hepatomegaly, Hypocalcemia, Cardiomyopathy, Abno...	ORPHA:175
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Lipoma, Hematochezia, Hypercalcemia, Weight loss, Increased urinary ...	ORPHA:913
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Penile Agenesis	Hydroureter, Maternal diabetes, Abnormality of the bladder, Bilateral renal agenesis, Atrophy of ...	ORPHA:49
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Pseudohypoparathyroidism Type 1C	Calcinosis, Low urinary cyclic AMP response to PTH administration, Prolonged QT interval, Hypocal...	ORPHA:79444
Orofaciodigital Syndrome Type 1	Chronic otitis media, Renal insufficiency, Tremor, Hearing impairment, Hydronephrosis, Dystonia, ...	ORPHA:2750
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Decreased liver function, Steatorrhea, Abdominal distention, Malnutrition, Di...	ORPHA:275761
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar vermis atrophy, Spasticity, Tremor, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi...	OMIM:614381
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Duplicated collecting system, Microtia, Vesicoureteral reflux, Ureterocele, Renal ag...	OMIM:604292
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Cocaine Intoxication	Ischemic stroke, Acute kidney injury, Prolonged QT interval, Hematuria, Supraventricular arrhythm...	ORPHA:90068
Kenny-Caffey Syndrome, Type 2	Anemia, Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened corte...	OMIM:127000
Dextrocardia	Abnormal renal morphology, Aplasia/Hypoplasia of the ear, Abnormality of the ureter	ORPHA:1666
Xanthinuria, Type I	Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis	OMIM:278300
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism	OMIM:260540
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Yellow Fever	Hematemesis, Acute kidney injury, Reduced left ventricular ejection fraction, Bradycardia, Capill...	ORPHA:99829
Frasier Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:136680
Fructose Intolerance, Hereditary	Bicarbonaturia, Gastrointestinal hemorrhage, Transient aminoaciduria, Abdominal pain, Proximal tu...	OMIM:229600
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Abdominal distention, Hematuria...	ORPHA:95455
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Hypokalemia, Anuria, Hypertension, Leukocytosis, Reticulocytosis, Unconjugat...	ORPHA:90038
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia, Exaggerated startle response, Cerebral cortical atrophy, Macrotia, Feedin...	OMIM:617864
Thakker-Donnai Syndrome	Macrotia, Hydronephrosis, Posteriorly rotated ears	ORPHA:1780
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Global brain atrophy, Resting tremor, Gliosis, Rigidity, Dystonia, Parkinsonism, My...	OMIM:168601
Leukocyte Adhesion Deficiency	Perianal abscess, Hemolytic-uremic syndrome, Acute myeloid leukemia, Recurrent tonsillitis, Impai...	ORPHA:2968
Mosaic Trisomy 9	Hypoplasia of penis, Low-set ears, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horsesh...	ORPHA:99776
Dubowitz Syndrome	Hypospadias, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Chronic diarrhea, ...	ORPHA:235
Williams-Beuren Syndrome	Abnormal renal morphology, Hypertension, Pulmonic stenosis, Nephrocalcinosis, Urethral stenosis, ...	OMIM:194050
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Tube feeding, Low-set ears, Protuberant abdomen, Posteriorly rotated ears, Feeding d...	OMIM:619479
Nijmegen Breakage Syndrome	Recurrent otitis media, Hyperactivity, Recurrent urinary tract infections, Diarrhea, Macrotia, Hy...	OMIM:251260
Meacham Syndrome	Stillbirth, Enlarged kidney, Accessory spleen, Aplasia of the left hemidiaphragm, Neonatal death,...	OMIM:608978
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Peripheral Primitive Neuroectodermal Tumor	Anorexia, Abdominal distention, Torticollis, Vertigo, Episodic abdominal pain, Nausea and vomiting	ORPHA:370348
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Weight loss, Subcutaneous lipoma	ORPHA:97278
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla...	ORPHA:99106
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Dysmetria	ORPHA:529665
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia	ORPHA:2239
Hardikar Syndrome	Decreased liver function, Hematemesis, Mild hearing impairment, Hydroureter, Recurrent urinary tr...	OMIM:301068
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Asplenia, Pulmonic stenosis, Failure to thrive, Renal agenesis, Mi...	OMIM:306955
Pallister-Hall Syndrome	Hydroureter, Ectopic kidney, Microtia, Renal cyst, Distal urethral duplication, Atresia of the ex...	OMIM:146510
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hypoketotic hypoglycemia, Myoglobinuria, Polycystic kidney dys...	ORPHA:157
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Diarrhea, Vomiting, Nausea, Poor appetite, Decreased urine output	ORPHA:542323
1P36 Deletion Syndrome	Optic atrophy, Abnormality of the kidney, Hypospadias, Low-set, posteriorly rotated ears, Hypopla...	ORPHA:1606
Trisomy 8P	Abnormal middle ear morphology, Aplasia/Hypoplasia of the tragus, Conductive hearing impairment, ...	ORPHA:264450
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Microphthalmia, Syndromic 9	Pelvic kidney, Low-set ears, Renal hypoplasia, Hydronephrosis, Renal malrotation, Horseshoe kidney	OMIM:601186
Diffuse Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Nausea and vomiting, Malabsorption, Dysphagia, Oliguria, Renal insuffici...	ORPHA:220393
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Unilateral renal agenesis, Hypospadias, Low-set, posteriorly rotated ears, Cerebel...	ORPHA:487796
Heterotaxy, Visceral, 5, Autosomal	Cerebral atrophy, Ureteral duplication, Cerebellar atrophy, Ureteral stenosis, Renal hypoplasia	OMIM:270100
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami...	ORPHA:96
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification	OMIM:618618
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Neu...	OMIM:612852
Arboleda-Tham Syndrome	Chronic otitis media, Optic atrophy, Recurrent otitis media, Gastroesophageal reflux, Recurrent u...	OMIM:616268
Legionnaires Disease	Anorexia, Hematuria, Diarrhea, Abdominal pain, Proteinuria, Nausea and vomiting, Renal insufficiency	ORPHA:549
Aceruloplasminemia	Limb ataxia, Hypochromic microcytic anemia, Torticollis, Abnormal circulating enzyme concentratio...	ORPHA:48818
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Hypotension, Leukocytosis, Neutrophilia, L...	ORPHA:36238
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Thrombo...	ORPHA:88
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Sensorineural hearing impairment, Demyelinating peripheral neuropathy, Cerebellar ...	ORPHA:99949
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Global brain atrophy, Abnormality of extrapyramidal motor function, ...	OMIM:234200
Goodpasture Syndrome	Anemia, Glomerular crescent formation, Cylindruria, Increased blood urea nitrogen, Macroscopic he...	OMIM:233450
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tu...	ORPHA:73224
Foodborne Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:228371
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Tremor, Obesity, Parkinsonism	ORPHA:3077
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con...	OMIM:617243
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hypokalemia, Prominent U wave, Prolonged QTc interval, Enamel hypoplasia, ...	OMIM:170390
Immunoglobulin A Vasculitis	Anorexia, Gastrointestinal infarctions, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, O...	ORPHA:761
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia	OMIM:614407
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen	OMIM:277300
Congenital Tufting Enteropathy	Abdominal distention, Steatorrhea, Chronic diarrhea, Vomiting, Secretory diarrhea, Malabsorption,...	ORPHA:92050
Frasier Syndrome	Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto...	ORPHA:347
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Optic nerve hypoplasia, Polyphagia, Fixated interests, Attention defic...	OMIM:620330
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Neurodegeneration, Leukopenia, Lymphopenia	OMIM:620210
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ...	ORPHA:101
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia,...	ORPHA:667
Spastic Ataxia 5, Autosomal Recessive	Dystonia, Cerebellar atrophy, Dysphagia, Onion bulb formation	OMIM:614487
Vitamin D-Dependent Rickets, Type 2A	Hearing impairment, Protuberant abdomen	OMIM:277440
Oculopharyngodistal Myopathy	Paraplegia, Vocal cord paresis, Weight loss	ORPHA:98897
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Thrombocytopenia, Intracra...	ORPHA:163979
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Achondrogenesis, Type Ib	Abdominal distention	OMIM:600972
Currarino Syndrome	Abdominal distention, Urinary incontinence, Recurrent urinary tract infections, Neurogenic bladde...	OMIM:176450
Microscopic Polyangiitis	Gastrointestinal infarctions, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Diarrhea, N...	ORPHA:727
Congenital Short Bowel Syndrome	Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, V...	OMIM:615237
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, ...	OMIM:608203
Tick-Borne Encephalitis	Hyperkinetic movements, Elevated circulating hepatic transaminase concentration, Tongue fascicula...	ORPHA:297
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Recurrent otitis media, Gastroesophageal reflux, Chronic diarrhea, Vomiting	OMIM:620233
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Constipation, Abdominal distention, Protuberant abdomen, Feeding difficulties in infancy	ORPHA:226313
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Congenital Sialidosis Type 2	Abnormality of the kidney, Hepatomegaly, Inguinal hernia, Hepatosplenomegaly, Umbilical hernia, A...	ORPHA:93400
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Ureteral duplication, Abnormal antihelix morphology, Recurrent urinary...	ORPHA:2036
Porphyria, Acute Intermittent	Paralysis, Reduced erythrocyte porphobilinogen deaminase activity, Respiratory paralysis	OMIM:176000
Asparagine Synthetase Deficiency	Global brain atrophy, Gastroesophageal reflux, Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Ex...	OMIM:615574
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Inguinal hernia, Pancytopenia, Hypocal...	OMIM:613658
3Mc Syndrome 1	Hearing impairment, Conductive hearing impairment, Hydronephrosis	OMIM:257920
Short-Rib Thoracic Dysplasia 12	Abnormal pinna morphology, Low-set ears, Renal hypoplasia, Posteriorly rotated ears, Protuberant ...	OMIM:269860
Proteus Syndrome	Abnormal subcutaneous fat tissue distribution, Cranial hyperostosis, Enlarged kidney, Long penis,...	ORPHA:744
Familial Thyroid Dyshormonogenesis	Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea...	ORPHA:95716
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hem...	ORPHA:99827
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Sensorineural hearing impairment,...	ORPHA:99956
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri...	OMIM:615490
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Camptodactyly of finger, Lymphangioma, Splenomegal...	ORPHA:2136
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Adrenoleukodystrophy	Limb ataxia, Incoordination, Truncal ataxia, Paraparesis, Spastic paraplegia, Neurodegeneration, ...	OMIM:300100
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Liver Disease, Severe Congenital	Abdominal distention, Recurrent otitis media, Hypospadias, Diarrhea, Recurrent urinary tract infe...	OMIM:619991
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Abnormal cortical gyration, Poor suck, Low-set ears, Exaggerated startle response,...	OMIM:617527
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Abetalipoproteinemia	CNS demyelination, Fat malabsorption, Peripheral demyelination	OMIM:200100
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300554
Niemann-Pick Disease, Type A	Athetosis, Vomiting, Constipation, Delayed CNS myelination, Protuberant abdomen, Feeding difficul...	OMIM:257200
Igg4-Related Aortitis	Intestinal obstruction, Hydronephrosis, Abdominal pain	ORPHA:449400
Cranioectodermal Dysplasia 1	Low-set ears, Stage 1 chronic kidney disease, Chronic kidney disease, Protruding ear, Stage 5 chr...	OMIM:218330
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Sensorineural hearing impairment, Bilateral renal agenesi...	OMIM:619194
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Hypersegmentation of neutrophil nuclei, Dysmetria, Macrocytic anemia	OMIM:615578
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Peripheral axonal neuropathy, Exaggerated startle response, Decreased number of pe...	ORPHA:320406
Renal Nutcracker Syndrome	Hematuria, Orthostatic hypotension, Abdominal pain, Renal artery stenosis, Abnormal autonomic ner...	ORPHA:71273
Papa Syndrome	Crohn's disease, Type I diabetes mellitus, Proteinuria	ORPHA:69126
Bladder Exstrophy	Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Bowel...	ORPHA:93930
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Duplicated collecting system, Microtia, Vesicoureteral reflux, Ureterocele, Renal ag...	OMIM:129900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Myoglobinuria...	ORPHA:228308
Rift Valley Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Decerebrate rigidity, ...	ORPHA:319251
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Sensorineural hearing impairment, Impulsivity, EEG abnormality, Aggressive behavio...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Sensorineural hearing impairment, Impulsivity, EEG abnormality, Aggressive behavio...	ORPHA:353277
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Pate...	OMIM:618280
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Seckel Syndrome 10	Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Insulin resistance, Glucose intolerance	OMIM:617253
Chime Syndrome	Abnormality of the kidney, Hearing impairment, Cerebral cortical atrophy, Hydronephrosis, Abnorma...	ORPHA:3474
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Glycogen Storage Disease V	Myoglobinuria, Failure to elevate lactate upon ischemic exercise test, Dark urine	OMIM:232600
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Developmental And Epileptic Encephalopathy 4	Cerebral atrophy, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Mild proteinuria, Opisthotonus, Feeding difficulties, Nasogastric tube feeding	OMIM:619685
Migraine, Familial Hemiplegic, 2	Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme...	OMIM:602481
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Urinary incontinence, Hepatomegaly, Increased circulating NT-proB...	OMIM:232300
Wiskott-Aldrich Syndrome	Hematemesis, Abnormal platelet function, Abnormal platelet morphology, Epistaxis, Hematochezia, L...	ORPHA:906
Tetanus	Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norepinephrine le...	ORPHA:3299
Bardet-Biedl Syndrome	Aganglionic megacolon, Impaired fasting glucose, Low-set, posteriorly rotated ears, Hypoplasia of...	ORPHA:110
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hydronephrosis, Facial palsy	ORPHA:1358
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Abnormality of blood circulation, C...	ORPHA:860
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism, Neurodegeneration	OMIM:146500
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology	OMIM:123550
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Oral-pharyngeal dysphagia, Peripheral axonal neuropathy, Facial diplegia, Decrease...	ORPHA:254930
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Frontotemporal cerebral atrophy, Spasticity, Parkinsonism with favorable response t...	ORPHA:199351
Acrorenal-Mandibular Syndrome	Polycystic kidney dysplasia, Aplasia of the bladder, Low-set ears, Abnormality of the ureter, Ren...	OMIM:200980
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Myoglobinuria, Fulminant ...	OMIM:231530
Scorpion Envenomation	Acute kidney injury, Diarrhea, Abdominal pain, Tremor, Vomiting, Glycosuria, Hyperglycemia, Restl...	ORPHA:466677
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Cerebral Creatine Deficiency Syndrome 1	Failure to thrive, Elevated urinary creatine/creatinine ratio, Prolonged QT interval, Elevated ci...	OMIM:300352
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Weight loss	ORPHA:1302
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Hematuria, Proteinuria, Central nervous system degeneration	OMIM:192315
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Liver abscess, Anemia, Leukocytosis, Weight loss, Hypoalb...	ORPHA:67
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hearing impairment, Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Wolman Disease	Abdominal distention, Steatorrhea, Nausea and vomiting, Malnutrition, Hepatic failure	ORPHA:75233
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Dilated cardiomyopathy, Thrombocytopenia, Mitral regurgitation	ORPHA:261250
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Holoprosencephaly	Optic atrophy, Gastroesophageal reflux, Hypoplasia of penis, Abnormal antihelix morphology, Abnor...	ORPHA:2162
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Myoclonic spasms, Diffuse cerebellar atrophy, Poor coo...	ORPHA:478029
Cap Polyposis	Abdominal distention, Diarrhea, Abdominal pain, Constipation, Hematochezia	ORPHA:160148
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Tremor, Renal insufficiency	ORPHA:713
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Micropenis	OMIM:241410
Early Infantile Epileptic Encephalopathy	EEG with spike-wave complexes, Hyperactivity, Hypsarrhythmia, Tremor, Uni- and bilateral multifoc...	ORPHA:1934
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level, Hypertension, Epistaxis, Increased urinary potass...	ORPHA:231625
Shigellosis	Myocarditis, Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Splenic abscess, Leukocy...	ORPHA:810
Encephalocraniocutaneous Lipomatosis	Cerebral atrophy, Hypertonia, Tetraplegia, Spasticity, Subcortical cerebral atrophy, Cerebral cor...	ORPHA:2396
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Sweet Syndrome	Small vessel vasculitis, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia...	ORPHA:3243
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Primary Peritoneal Carcinoma	Constipation, Abdominal distention, Nausea and vomiting, Abdominal pain	ORPHA:168829
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Nephrocalcinosis, Multiple renal cysts, EEG abnormality, Low-set, posterior...	ORPHA:534
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnormal peripheral ...	ORPHA:168563
Craniofacioskeletal Syndrome	Microtia, Hydronephrosis, Posteriorly rotated ears, Hypospadias	OMIM:300712
Aymé-Gripp Syndrome	Sensorineural hearing impairment, Microtia, Stenosis of the external auditory canal, Low-set ears...	ORPHA:1272
Apert Syndrome	Chronic otitis media, Hearing impairment, Hydronephrosis	OMIM:101200
Pyomyositis	Leukocytosis, Weight loss, Recurrent cutaneous abscess formation, Renal insufficiency, Sudden car...	ORPHA:764
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Vesicouret...	ORPHA:2363
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Fasciculations, Polyminimyoclonus, Vocal cord paresis, Tremor	OMIM:619574
Perry Syndrome	Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss	OMIM:168605
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Vocal cord paralysis, Cerebral cortical atrophy, Dystonia, Myoclonus	ORPHA:500144
3-Methylglutaconic Aciduria, Type Viib	Cerebral atrophy, Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxi...	OMIM:616271
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Nephrotic syndrome, Hearing impairment, Constipation, Hydronephrosis, Posteriorly r...	OMIM:601776
Giant Axonal Neuropathy 1, Autosomal Recessive	Sensory axonal neuropathy, Facial palsy, Vomiting, Decreased number of peripheral myelinated nerv...	OMIM:256850
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ...	OMIM:618056
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontotemporal cerebral atrophy, Abdominal distention, Gastroesophageal reflux, Medullary nephroc...	OMIM:619534
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Elevated systolic blood pressure, Decreased circulati...	OMIM:300539
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Low-set ears, Dysphagia, Exaggerated startle response	OMIM:617301
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Relapsing Polychondritis	Glomerulopathy, Hematuria, Sensorineural hearing impairment, Vertigo, Proteinuria, Chondritis of ...	ORPHA:728
Fryns Syndrome	Ureteral duplication, Aganglionic megacolon, Hypospadias, Abnormal helix morphology, Low-set ears...	OMIM:229850
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Schwartz-Jampel Syndrome	Low-set, posteriorly rotated ears, Blepharospasm, Nephrolithiasis, Abnormality of the ureter, Fee...	ORPHA:800
Jacobsen Syndrome	Cerebral atrophy, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Constipa...	ORPHA:2308
Duplication Of Urethra	Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf...	ORPHA:237
Orofaciodigital Syndrome I	Cerebral atrophy, Abnormal cortical gyration, Polycystic kidney dysplasia, Low-set ears, Gray mat...	OMIM:311200
Trisomy 18	Hydronephrosis, Pointed helix, Low-set, posteriorly rotated ears, Abnormality of the upper urinar...	ORPHA:3380
Congenital Myopathy 22A, Classic	Bradycardia, Osteoporosis, Congenital finger flexion contractures, Tricuspid regurgitation, Hip c...	OMIM:620351
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Hydronephrosis, Urethral atresia	OMIM:271520
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Gastroesophagea...	OMIM:201300
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, 3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Hyperactivity, Exaggerated startle response, Macrotia, EEG abnormality	OMIM:617281
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal circulating enzyme concentration or activity, Chorea, Tremor, Athetosis, Poor motor coor...	ORPHA:25
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Protuberant abdomen	OMIM:151210
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Nausea and vomiting	ORPHA:91351
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym...	ORPHA:83471
Triosephosphate Isomerase Deficiency	Cerebral atrophy, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Mac...	OMIM:615512
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea, Carcinoid tumor, Neuro...	ORPHA:100085
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Simple Cryoglobulinemia	Abnormality of the kidney, Gastrointestinal hemorrhage, Abdominal pain, Nephrotic syndrome, Micro...	ORPHA:91139
Fraser Syndrome 3	Hypoplasia of penis, Bilateral renal agenesis, Low-set ears, Ureteral agenesis, Simple ear, Hypop...	OMIM:617667
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypospadias, Hydrou...	ORPHA:373
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Inguinal hernia, Bradycardia, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Multiple Endocrine Neoplasia Type 4	Subcutaneous lipoma, Hypercalcemia, Thymoma, Increased urinary cortisol level, Renal angiomyolipoma	ORPHA:276152
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Hepatomegaly, Hypospadias, Inguinal hernia, Car...	OMIM:312870
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Failure to thrive, Obesit...	OMIM:615873
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Fasting hypoglycemia, Hypoketotic hypoglycemia, Oliguria, Hepatic failure	ORPHA:159
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav...	ORPHA:240071
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hearing impairment,...	ORPHA:1507
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	4-hydroxyphenylacetic aciduria, Abdominal distention, 4-Hydroxyphenylpyruvic aciduria, Hypoglycem...	OMIM:617156
Pauci-Immune Glomerulonephritis	Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Abdominal pain, ...	ORPHA:93126
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Bradycardia	OMIM:614498
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Gastroesophageal reflux, Hearing impairment, Posteriorly rotated ears, Feeding diffi...	OMIM:610759
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine, Episodic abdominal pain, Hepatic failure	ORPHA:228305
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Failure t...	OMIM:220120
Mesomelia-Synostoses Syndrome	Hearing impairment, Hydronephrosis	OMIM:600383
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Dpagt1-Cdg	Hepatomegaly, Anemia, Prolonged QT interval, Osteoporosis, Camptodactyly, Failure to thrive, Lipo...	ORPHA:86309
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Cerebellar atrophy, Posteriorly rotated ears, Exaggerated startle response	OMIM:618598
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color	ORPHA:98895
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Decreased liver function, Myoglobinuria, Vomiting	OMIM:602199
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Hypercalcemia	OMIM:131100
Gaucher Disease Type 1	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hematuria, Pancytopeni...	ORPHA:77259
Doors Syndrome	Optic atrophy, Gastroesophageal reflux, Polymicrogyria, Poor suck, Low-set ears, Atresia of the e...	ORPHA:79500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Abdominal distention, Diarrhea, Reye syndrome-like episodes, Vomiting, Dystonia, Acute hepatic fa...	OMIM:256810
Caudal Duplication	Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology	ORPHA:1756
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Coffin-Siris Syndrome 1	Hydroureter, Ectopic kidney, Hypospadias, Abnormal pinna morphology, Low-set ears, Compulsive beh...	OMIM:135900
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Mowat-Wilson Syndrome	Abnormality of the kidney, Abdominal distention, Recurrent otitis media, Aganglionic megacolon, H...	OMIM:235730
Inhalational Botulism	Paralysis	ORPHA:254504
Lethal Kniest-Like Dysplasia	Low-set ears, Protuberant abdomen	ORPHA:2347
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Robinow Syndrome, Autosomal Recessive 1	Hypospadias, Microtia, Low-set ears, Nephrolithiasis, Hearing impairment, Hydronephrosis, Renal d...	OMIM:268310
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Peters Plus Syndrome	Optic atrophy, Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Low-set, posteriorly ...	ORPHA:709
Fibrochondrogenesis 1	Abnormal pinna morphology, Low-set ears, Protuberant abdomen	OMIM:228520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury	ORPHA:57
Congenital Disorder Of Glycosylation, Type Iiaa	Hypoglycemia, Hydronephrosis, Unilateral renal agenesis, Hepatic failure	OMIM:620454
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Hypospadias, Inguinal hernia, Hypocalcem...	ORPHA:567
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Aganglionic megacolon, Glandular hypospadias, Urogenital sinus anomaly,...	ORPHA:2473
Hyperkalemic Periodic Paralysis	Fasciculations, Hypertonia, Periodic hyperkalemic paralysis, Cerebral palsy	ORPHA:682
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Diabetes mell...	ORPHA:33001
Knobloch Syndrome 1	Cerebral atrophy, Duplicated collecting system, Polymicrogyria, Cerebellar atrophy, Renal duplica...	OMIM:267750
Poliomyelitis	Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis	ORPHA:2912
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Abdominal distention, Hematochezia	ORPHA:103910
Paroxysmal Cold Hemoglobinuria	Diarrhea, Nausea and vomiting, Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Ileal Neuroendocrine Tumor	Intermittent diarrhea, Episodic vomiting, Episodic abdominal pain, Small intestine carcinoid, Nau...	ORPHA:100078
Peritoneal Cystic Mesothelioma	Constipation, Abdominal distention, Abdominal pain	ORPHA:168816
Robinow Syndrome	Mixed hearing impairment, Multicystic kidney dysplasia, Low-set ears, Hydronephrosis, Posteriorly...	ORPHA:97360
Neu-Laxova Syndrome 2	Lissencephaly, Low-set ears, Protuberant abdomen	OMIM:616038
Agammaglobulinemia, X-Linked	Anemia, Recurrent urinary tract infections, B lymphocytopenia, T lymphocytopenia, Lymph node hypo...	OMIM:300755
Floating-Harbor Syndrome	Recurrent otitis media, Hypospadias, Glandular hypospadias, Low-set ears, Conductive hearing impa...	OMIM:136140
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Charge Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Self-mutilation, Low-set ea...	OMIM:214800
Oncogenic Osteomalacia	Renal phosphate wasting, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Fibrous dysplasia of ...	ORPHA:352540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Megacystis, Hydronephrosis, Hydroureter, Hepatic failure	OMIM:619431
Ivic Syndrome	Thrombocytopenia, Leukocytosis, Arrhythmia	ORPHA:2307
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Feeding difficulties in infancy, Partial development of the penile shaft, Exaggerated startle res...	OMIM:608800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Mac...	OMIM:614748
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Glycogen Storage Disease Ixd	Hypoglycemia, Exercise-induced myoglobinuria	OMIM:300559
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neutropenia	ORPHA:293173
Sanjad-Sakati Syndrome	Hypoplasia of penis, Hypocalcemia, Abnormal dental enamel morphology, Patchy osteosclerosis, Hype...	ORPHA:2323
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Elevated circulating hepatic transaminase concentration, Abnormal circulati...	ORPHA:79095
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Tetrasomy 9P	Inappropriate behavior, Abnormal earlobe morphology, Hyperactivity, Recurrent urinary tract infec...	ORPHA:3310
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Involuntary movements, Cerebral cortical atrophy, Rigidity, Dystonia, Parki...	OMIM:615530
Intellectual Developmental Disorder, Autosomal Dominant 73	Recurrent otitis media, Hydroureter, Pica, Microtia, Self hugging, Low-set ears, Anteverted ears,...	OMIM:620450
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, CNS hypomyelination	OMIM:619423
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Pollakisuria, Right bundle branch block, Elevated cir...	ORPHA:268
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Limb hypertonia, Abnormal circulating enzyme concentration or activity, Tremor,...	ORPHA:572798
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Abdominal distention, Gastroparesis, Abdominal pain	OMIM:277320
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Craniofacial ost...	OMIM:618476
Rett Syndrome	Prolonged QTc interval, Cachexia, Abnormal T-wave	OMIM:312750
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Hypocalcemia, Failure to thrive, Micropenis, Small for gestational age	OMIM:607143
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Ataxia, Myoclonus	OMIM:607876
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Oculomotor apraxia, Chorea, Tremor, Cerebellar atrophy, Hea...	OMIM:606002
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Thauvin-Robinet-Faivre Syndrome	Protruding ear, Sensorineural hearing impairment, Renal cyst, Macrotia, Bifid ureter, Renal dyspl...	OMIM:617107
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Peutz-Jeghers Syndrome	Abdominal pain, Bloody diarrhea, Abnormality of the ureter, Bladder polyp, Intestinal bleeding	OMIM:175200
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Renal Tubular Dysgenesis	Renotubular dysgenesis, Anuria, Abnormality of the urinary system	OMIM:267430
Lysinuric Protein Intolerance	Abnormal renal tubule morphology, Steatorrhea, Argininuria, Oroticaciduria, Decreased glomerular ...	ORPHA:470
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Leukemia, Dysdiadochokinesis, Tremor, Lymphopenia, Hypoplasia of t...	OMIM:208900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Nephropathy, Proteinuria, Glomerular sclerosis	ORPHA:247691
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Facial palsy	ORPHA:206549
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Elevated circulating hepatic transaminase concentration, Tremor, Elevated circulating a...	ORPHA:69665
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Diarrhea, Abdominal pain, Nephrotic syndrom...	ORPHA:342
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Hyperactivity, Aggressive behavior	ORPHA:401973
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Malakoplakia	Hematuria, Diarrhea, Abdominal pain, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Ur...	ORPHA:556
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Niemann-Pick Disease Type C	Chorea, Limb dystonia, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Jaundice, Axial dystonia, Tre...	ORPHA:646
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Ataxia, Ankle clonus, C...	OMIM:211530
Caroli Syndrome	Hematemesis, Abnormality of the kidney, Liver abscess, Hepatomegaly, Melena, Polycystic kidney dy...	ORPHA:480520
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Nephropathy, Renal insufficiency	ORPHA:1563
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Aganglionic megacolon, Hydroureter, Subcortical cerebral atrophy, Abno...	ORPHA:2273
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane,...	ORPHA:2614
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Nephrolithiasis, Stereotypical hand wringing, Exa...	ORPHA:438213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to...	OMIM:618278
Pseudohypoparathyroidism, Type Ia	Low urinary cyclic AMP response to PTH administration, Subcutaneous ossification, Osteoporosis, E...	OMIM:103580
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Bradycardia, Hyposthenuria, Hyponatremia, Obesity, ...	ORPHA:91355
Cerebral Visual Impairment	Oculomotor apraxia, Central nervous system degeneration, Cerebral palsy, Clumsiness, Neurodegener...	ORPHA:447788
Ventriculomegaly With Defects Of The Radius And Kidney	Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney	OMIM:602200
Chédiak-Higashi Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Abnormal leuko...	ORPHA:167
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormal pinna morphology, Dystonia, Feeding difficulties in infancy, Exaggerated startle response	ORPHA:438216
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Hydroureter, Abnormal tragus morphology, Low-set ears, Abnormality of ...	ORPHA:2636
Thyroid Hemiagenesis	Constipation, Abdominal distention	ORPHA:95719
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Gastroesophageal reflux, Episodic vomiting...	OMIM:201475
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebral atrophy, Hyperkinetic movements, Elevated circulating hepatic transaminase concentration...	OMIM:615356
Oculogastrointestinal Muscular Dystrophy	Abdominal distention, Malabsorption, Gastroparesis, Intestinal pseudo-obstruction	ORPHA:1876
Ovarian Fibroma	Abdominal distention, Abdominal pain	ORPHA:314473
Al-Gazali Syndrome	Gastrojejunal tube feeding in infancy, Hydronephrosis	OMIM:609465
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormal earlobe morphology, Abnormality of the ureter	ORPHA:141127
Mucolipidosis Type Ii	Sensorineural hearing impairment, Conductive hearing impairment, Otitis media, Protuberant abdome...	ORPHA:576
Rubinstein-Taybi Syndrome 1	Hypospadias, Gastroesophageal reflux, Hyperactivity, Low-set ears, Impulsivity, Hearing impairmen...	OMIM:180849
Campomelic Dysplasia	Hypospadias, Low-set ears, Hearing impairment, Conductive hearing impairment, Hydronephrosis, Fee...	OMIM:114290
Hellp Syndrome	Acute kidney injury, Abdominal pain, Vomiting, Nausea, Proteinuria, Hemoglobinuria	ORPHA:244242
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Noonan Syndrome	Osteopenia, Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, ...	ORPHA:648
Exstrophy-Epispadias Complex	Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen...	ORPHA:322
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis, Feeding difficulties	ORPHA:254528
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Failure to thrive, Ataxia, Splenomegaly, Low alkaline phosphatase	OMIM:201100
Paroxysmal Nocturnal Hemoglobinuria 2	Diarrhea, Abdominal pain, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hearing impairment, Hydronephrosis, Dysphagia, Feeding difficulties...	OMIM:606170
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydroneph...	OMIM:236700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Renal tubular acidosis, Diarrhea, Myoglobinuria, Ketotic hypoglycemia, Vomi...	ORPHA:79240
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Lingual dystonia, Abn...	ORPHA:2388
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Sensory axonal neuropathy, Exaggerated startle response, Motor axonal neuropathy, ...	OMIM:609541
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyse...	ORPHA:90673
Gaucher Disease	Hematuria, Abdominal pain, Tremor, Hearing impairment, Proteinuria, Dysphagia, Feeding difficulti...	ORPHA:355
Ovarian Fibrothecoma	Abdominal distention, Abdominal pain	ORPHA:314478
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Chylomicron Retention Disease	Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption	ORPHA:71
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Bradycardia, Failure to thrive, 3-Methylglutaric aciduria, Neonatal ...	OMIM:617248
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati...	ORPHA:216694
Ellis Van Creveld Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:289
Caroli Disease	Liver abscess, Hepatomegaly, Polycystic kidney dysplasia, Leukocytosis, Portal hypertension, Sple...	ORPHA:53035
Focal Dermal Hypoplasia	Optic atrophy, Mixed hearing impairment, Ureteral duplication, Stenosis of the external auditory ...	OMIM:305600
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Mowat-Wilson Syndrome	Urinary incontinence, Sensorineural hearing impairment, Bowel incontinence, Dysphagia, Bruxism, D...	ORPHA:2152
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Increased circulating free fatty acid level, Bradycardia	OMIM:610768
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Hematuria	OMIM:232800
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis, Cer...	OMIM:617799
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Brain atrophy, Low-set ears, Hydronephrosis, Diffuse cerebral atrophy, Micropenis, Gastrostomy tu...	ORPHA:83617
Achondrogenesis, Type Ia	Low-set ears, Protuberant abdomen	OMIM:200600
Viss Syndrome	Abdominal distention, Gastroesophageal reflux, Exostosis of the external auditory canal, Chronic ...	OMIM:619472
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv...	ORPHA:3093
Congenital Alveolar Capillary Dysplasia	Hydronephrosis, Aganglionic megacolon	ORPHA:210122
Meckel Syndrome, Type 1	Polycystic kidney dysplasia, Low-set ears, Abnormality of the ureter, Renal agenesis, Hypoplasia ...	OMIM:249000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Anemia, Pancytopenia, Tremor, Failure to thrive, Thr...	OMIM:251100
Atelosteogenesis Type Ii	Low-set ears, Protuberant abdomen	ORPHA:56304
Postinfectious Vasculitis	Anorexia, Gastrointestinal inflammation, Hematuria, Abnormality of the peripheral nervous system,...	ORPHA:48435
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Spinal neurofibroma, Abnormal renal morphology, Attention deficit hyper...	ORPHA:363700
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Feeding difficulties, Hypoketotic hypoglycemia	OMIM:609015
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the bladder, Low-set ears, Hydronephrosis, Dilatation of ...	OMIM:265380
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Camptodactyly, Prolonged QT interval, Flexion contracture, Pulmonary arterial hypertension	OMIM:620029
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Hypoglycemia, Recurrent myoglobinuria	OMIM:620300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Renal tubular acidosis, Diarrhea, Myoglobinuria, Vomiting, Nausea, Hypoglyc...	ORPHA:264580
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Hypertonia, Anemia, Oculomotor apraxia, Pancytopenia, Cachexia, Spastic paraplegia, ...	ORPHA:2072
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Abnormal circulating thyroglobulin concentration, Failure to thrive, Delayed proxima...	ORPHA:90674
Noonan Syndrome 9	Hydroureter	OMIM:616559
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Reduced sepiapterin re...	OMIM:612716
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Spondyloenchondrodysplasia	Hematuria, Proteinuria, Chronic kidney disease	ORPHA:1855
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Inguinal hernia, Hypocalcemia, Hypoplasia of the thymus, Femor...	OMIM:188400
Acrofacial Dysostosis, Cincinnati Type	Mild hearing impairment, Recurrent otitis media, Microtia, Low-set ears, Hearing impairment, Macr...	OMIM:616462
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Sensorineural hearing impairment, Bowel incontinence, Dysphagia, EEG abnorm...	ORPHA:261537
45,X/46,Xy Mixed Gonadal Dysgenesis	Epispadias, Abnormality of the kidney, Prolonged QT interval, Hypospadias, Penoscrotal hypospadia...	ORPHA:1772
Peters-Plus Syndrome	Cerebral atrophy, Ureteral duplication, Hypospadias, Stenosis of the external auditory canal, Mic...	OMIM:261540
Heart Defects, Congenital, And Other Congenital Anomalies	Glycosuria, Diabetes mellitus, Ureteral duplication, Hyperglycemia	OMIM:600001
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Tongue thrusting, Gastroesophageal reflux, Diarrhea, Athetosis, B...	OMIM:608643
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormal cortical gyration, Low-set, posteriorly rotated ears, Brain atrophy, Low-set ears, Heari...	ORPHA:480880
Bardet-Biedl Syndrome 20	Papilledema, Micropenis, Proteinuria	OMIM:619471
Thanatophoric Dysplasia, Type I	Protuberant abdomen, Gray matter heterotopia	OMIM:187600
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Fanconi Anemia	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnormal preputium morphology, Hearing abnorm...	ORPHA:84
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Hearing impairment, Small earlobe, Delayed peripheral myelination	ORPHA:364577
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edem...	ORPHA:91500
Ureterocele	Ureterocele, Duplicated collecting system	OMIM:191650
Cholesteryl Ester Storage Disease	Steatorrhea, Diarrhea, Vomiting, Acute hepatic failure, Protuberant abdomen, Hepatic failure	OMIM:278000
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Hypospadias, Abnormal pinna morphology, Low-set ears, Gray matter het...	OMIM:236680
X-Linked Acrogigantism	Abnormal oral glucose tolerance, Abdominal distention, Fasting hyperinsulinemia, Polyphagia	ORPHA:300373
Meige Disease	Atypical scarring of skin, Cellulitis, Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency	OMIM:208500
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Optic neuropathy	ORPHA:320375
Atelosteogenesis, Type I	Low-set ears, Protuberant abdomen	OMIM:108720
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Sensorineural hearing impairment, Bowel incontinence, Dysphagia, Duplicatio...	ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Type II lissencephaly, Gray matter heterotopia, Hydronephrosis, Micropenis...	OMIM:615287
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Lymphatic Filariasis	Abnormality of the kidney, Hematuria, Urethral obstruction, Nephrotic syndrome, Proteinuria, Glom...	ORPHA:2035
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Weight loss, Bradycardia	ORPHA:221098
Atypical Werner Syndrome	Renal neoplasm, Hyperinsulinemia, Glycosuria, Hyperglycemia, Type II diabetes mellitus, Fasting h...	ORPHA:79474
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Episodic abdominal pain, Nausea, Neuroendocrine neoplasm	ORPHA:100086
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis, Amyotrophic lateral sclerosis	ORPHA:600
Cutis Laxa, Autosomal Recessive, Type Ic	Gastroesophageal reflux, Multiple bladder diverticula, Feeding difficulties, Hydronephrosis	OMIM:613177
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Acquired Generalized Lipodystrophy	Insulin resistance, Hyperinsulinemia, Proteinuria, Insulin-resistant diabetes mellitus	ORPHA:79086
Hamamy Syndrome	Osteopenia, Inguinal hernia, Enamel hypoplasia, Microcytic anemia, Prolonged QRS complex, Cranios...	OMIM:611174
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Calvarial osteosclerosis, Decreased skull ossification, Cortical t...	ORPHA:93325
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Microtia, Low-set ears, Ureterocele, Uplifted earlobe, Posteriorly rotated ears, Ove...	OMIM:616734
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Agitation, Hyperactivity, Hypsarrhythmia, Poor suck, Exaggerated startl...	OMIM:620423
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Ureteral duplication, Nephronophthisis, Low-set ears, Renal cyst, Posteriorl...	OMIM:266920
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Glycogen Storage Disease Ic	Hematuria, Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Inflammation...	OMIM:232240
Urachal Cyst	Hematuria, Elevated circulating C-reactive protein concentration, Pyuria, Dysuria, Leukocytosis, ...	ORPHA:488
Oeis Complex	Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena...	OMIM:258040
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Vesicoureteral reflux, Pulmonic stenosis, Failure to thrive in infancy, Tr...	ORPHA:529962
Primary Biliary Cholangitis	Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Orthostatic hypotension, Hepati...	ORPHA:186
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	ORPHA:93352
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Hydronephrosis, Posteriorly rotated ears, Renal duplication, Micropenis	OMIM:180700
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:64739
African Trypanosomiasis	Jaundice, Fasciculations, Tremor, Involuntary movements, Hemiparesis, Hepatosplenomegaly, Splenom...	ORPHA:3385
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Thyroid Hypoplasia	Constipation, Abdominal distention	ORPHA:95720
Bladder Exstrophy And Epispadias Complex	Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney	OMIM:600057
Pyknoachondrogenesis	Abdominal distention, Low-set ears	ORPHA:3003
Combined Oxidative Phosphorylation Defect Type 39	Congenital foot contractures, Bradycardia	ORPHA:565624
X-Linked Emery-Dreifuss Muscular Dystrophy	Obesity, Vocal cord paralysis	ORPHA:98863
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration, Ataxia	OMIM:615919
Emery-Dreifuss Muscular Dystrophy	Obesity, Vocal cord paralysis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Obesity, Vocal cord paralysis	ORPHA:98853
Mucopolysaccharidosis, Type Ii	Decreased iduronate sulfatase level, Neurodegeneration, Splenomegaly, Hepatosplenomegaly	OMIM:309900
Meckel Syndrome	Optic atrophy, Ureteral duplication, Low-set, posteriorly rotated ears, Urethral atresia, Multicy...	ORPHA:564
Blomstrand Lethal Chondrodysplasia	Low-set ears, Protuberant abdomen	ORPHA:50945
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ischemic stroke, Unilateral renal agenesis, Inguinal hernia, Hypocalcemia, Pelvic kidney, Elbow f...	OMIM:619503
Weill-Marchesani Syndrome 2	Thickened helices, Protuberant abdomen	OMIM:608328
Osteogenesis Imperfecta, Type Vii	Hearing abnormality, Hydronephrosis	OMIM:610682
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Pierson Syndrome	Tube feeding, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kidney...	OMIM:609049
Leukocyte Adhesion Deficiency Type Ii	Scarring, Hepatomegaly, Anemia, Recurrent urinary tract infections, Leukocytosis, Failure to thri...	ORPHA:99843
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Abnormal autonomic nervous system physiology, Decreased number of small peripheral...	OMIM:256800
Greenberg Dysplasia	Low-set ears, Protuberant abdomen	OMIM:215140
Down Syndrome	Renal hypoplasia/aplasia, Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophil...	ORPHA:870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abdominal distention, Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, ...	ORPHA:93271
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Flexion contracture, Tachycardia	OMIM:614653
Hereditary Spherocytosis	Abdominal distention, Abdominal pain	ORPHA:822
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Schneckenbecken Dysplasia	Protuberant abdomen	OMIM:269250
Letterer-Siwe Disease	Abdominal distention	OMIM:246400
Colonic Atresia	Abdominal distention	ORPHA:1198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Polymicrogyria, Type II lissencephaly, Agyria, Exaggerated startle response, Pachy...	OMIM:253800
Otopalatodigital Syndrome, Type Ii	Hypospadias, Low-set ears, Conductive hearing impairment, Hydronephrosis, Posteriorly rotated ears	OMIM:304120
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Reduced bone mineral density, Prolonged QT interval, Ectopic kidney, Renal hypoplasia...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Reduced bone mineral density, Prolonged QT interval, Ectopic kidney, Renal hypoplasia...	ORPHA:99228
Monosomy X	Osteopenia, Reduced bone mineral density, Prolonged QT interval, Ectopic kidney, Renal hypoplasia...	ORPHA:99226
Turner Syndrome	Osteopenia, Reduced bone mineral density, Prolonged QT interval, Ectopic kidney, Renal hypoplasia...	ORPHA:881
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Proximal Spinal Muscular Atrophy	Bradycardia, Elbow flexion contracture, Flexion contracture, Knee flexion contracture, Multiple j...	ORPHA:70
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Constipation, Hyperphosphaturia, Renal Fanconi ...	OMIM:309000
Gaucher Disease, Type Ii	Cerebral atrophy, Gastroesophageal reflux, Dysphagia, Feeding difficulties, Protuberant abdomen	OMIM:230900
Poland Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Urete...	ORPHA:2911
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute hepatic failure, Acute kidney injury	ORPHA:423
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Norrie Disease	Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp...	ORPHA:649
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Johanson-Blizzard Syndrome	Hypospadias, Sensorineural hearing impairment, Urethrovaginal fistula, Hydronephrosis, Malabsorpt...	OMIM:243800
Systemic Lupus Erythematosus	Anorexia, Hematuria, Pyuria, Proteinuria, Lupus nephritis	ORPHA:536
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Encopresis, Gastroesophageal reflux, Constipation, Proteinuria, Motor stereotypy, Feeding difficu...	OMIM:616682
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, CNS hypomyelination, Exaggerated startle response	ORPHA:309155
Microphthalmia, Syndromic 1	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Recurrent otitis media, Aganglionic megacolon...	OMIM:309800
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent otitis media, Impaired glucose tolerance, Macrotia, Chronic constipation, Protuberant a...	OMIM:256040
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis	OMIM:601152
Dyggve-Melchior-Clausen Disease	Hyperactivity, Protuberant abdomen	ORPHA:239
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Colitis	ORPHA:309031
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Leukocytosis, Renal hypoplasia, Flexion contracture, Abdominal obesity, Micropenis	OMIM:619321
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Velocardiofacial Syndrome	Hypocalcemia, Inguinal hernia, Umbilical hernia	OMIM:192430
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Dysphagia, Feeding difficulties, Delayed CNS my...	OMIM:618367
Gaucher Disease Type 3	Hematuria, Proteinuria	ORPHA:77261
Achondrogenesis, Type Ii	Protuberant abdomen	OMIM:200610
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis	OMIM:606071
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Microtia, Posteriorly rotated ears, Feeding difficulties, Lissencephaly, Protuberant abdomen, Gas...	ORPHA:96334
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Developmental And Epileptic Encephalopathy 68	Cerebral cortical atrophy, Exaggerated startle response	OMIM:618201
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Combined Immunodeficiency-Enteropathy Spectrum	Abdominal distention, Type I diabetes mellitus, Bloody diarrhea	ORPHA:436252
Pancreatoblastoma	Diarrhea, Abdominal distention, Vomiting, Abdominal pain	ORPHA:677
Bohring-Opitz Syndrome	Severe failure to thrive, Bradycardia, Bilateral wrist flexion contracture, Congenital contractur...	ORPHA:97297
Arnold-Chiari Malformation Type I	Babinski sign, Vocal cord paralysis, Progressive cerebellar ataxia, Gait ataxia	ORPHA:268882
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Delayed CNS myelination, Axial ma...	OMIM:274000
Thyroid Ectopia	Constipation, Abdominal distention, Dysphagia	ORPHA:95712
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypertonia, Spasticity, Gliosis, Spastic tetraparesis, Failure to thrive, Neurodegeneration	OMIM:620455
Developmental And Epileptic Encephalopathy 8	Frontal polymicrogyria, Exaggerated startle response	OMIM:300607
Stiff-Person Syndrome	Diabetes mellitus, Opisthotonus, Exaggerated startle response	OMIM:184850
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia	OMIM:218700
Stiff Person Spectrum Disorder	Diabetes mellitus, Exaggerated startle response	ORPHA:3198
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Distal ure...	ORPHA:227
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor, Weight loss	ORPHA:91347
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Mandibuloacral Dysplasia Progeroid Syndrome	Glucose intolerance, Proteinuria, Focal segmental glomerulosclerosis	OMIM:619127
Interatrial Communication	Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle...	ORPHA:1478
Proboscis Lateralis	Unilateral renal agenesis, Optic nerve hypoplasia, Ureteral agenesis, Optic disc coloboma, Duplic...	ORPHA:141099
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Pmm2-Cdg	Abnormal renal tubule morphology, Hyperinsulinemia, Abnormal pinna morphology, Nephrotic syndrome...	ORPHA:79318
Pineoblastoma	Paralysis	ORPHA:251909
Hyperekplexia 3	Gastroesophageal reflux, Exaggerated startle response	OMIM:614618
Restrictive Dermopathy 1	Ureteral duplication, Low-set ears, Hypospadias	OMIM:275210
Hyperekplexia 2	Gastroesophageal reflux, Exaggerated startle response	OMIM:614619
Kasabach-Merritt Phenomenon	Abdominal distention, Abdominal pain	ORPHA:2330
Restrictive Dermopathy	Ureteral duplication, Low-set ears, Hypospadias	ORPHA:1662
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Overweight, Bradycardia	ORPHA:226307
Woodhouse-Sakati Syndrome	Osteopenia, Hyperlipidemia, Micropenis, Abnormal T-wave	ORPHA:3464
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Scarring, Inguinal hernia, Bradycardia,...	OMIM:614437
Van Esch-O'Driscoll Syndrome	Cerebral atrophy, Unilateral vocal cord paralysis, Spasticity, Cerebellar atrophy	OMIM:301030
Degcags Syndrome	Anemia, Iron deficiency anemia, Pancytopenia, Vocal cord paralysis, Abnormal spleen morphology, F...	OMIM:619488
Esophageal Atresia	Failure to thrive in infancy, Hypertonia, Vocal cord paresis, Small for gestational age	ORPHA:1199
Woodhouse-Sakati Syndrome	Hyperlipidemia, Micropenis, Abnormal T-wave	OMIM:241080
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Chand Syndrome	Hydroureter	ORPHA:1401
Feingold Syndrome 1	Asplenia, Vocal cord paralysis, Polysplenia, Accessory spleen	OMIM:164280
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intermittent diarrhea, Ureteral duplication, Feeding difficulties, Neonatal insulin-dependent dia...	ORPHA:2255
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Demyelinating peripheral neuropathy, Basal lamina onion bulb formation	ORPHA:2821
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis	ORPHA:324540
Codas Syndrome	Vocal cord paresis	OMIM:600373
Friedreich Ataxia 2	Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy	OMIM:601992
Primrose Syndrome	Neurodegeneration, Ataxia, Truncal obesity	OMIM:259050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Kidney - MPATH pathological process term inflammation	Scarb2^em2(IMPC)Tcp	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scarb2.

No publications found that use IMPC mice or data for Scarb2.

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MGI Allele	Allele Type	Produced
Scarb2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Scarb2^em2(IMPC)Tcp	Indel	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Scarb2 MGI:1196458

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Immunophenotyping

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X-ray

X-ray

Immunophenotyping

Gross Pathology and Tissue Collection

Histopathology

Eye Morphology

Human diseases caused by Scarb2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data