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Gene: Lmod3 MGI:2444169

Gene Summary

Name:

leiomodin 3 (fetal)

Synonyms:

5430424A14Rik

Order Alleles

IMPC Data Collections

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 erythrocyte cell number	Lmod3^em1(IMPC)Mbp	HET	Late adult	5.09×10^-09
decreased bone mineral content	Lmod3^em1(IMPC)Mbp	HOM	Early adult	2.68×10^-06
decreased bone mineral density	Lmod3^em1(IMPC)Mbp	HOM	Early adult	8.51×10^-14
decreased lymphocyte cell number	Lmod3^em1(IMPC)Mbp	HOM	Early adult	1.16×10^-07
decreased total body fat amount	Lmod3^em1(IMPC)Mbp	HOM	Early adult	4.18×10^-06
blind uterus	Lmod3^em1(IMPC)Mbp	HET	Late adult	0.00
decreased body length	Lmod3^em1(IMPC)Mbp	HOM	Early adult	2.07×10^-07
abnormal skeletal muscle morphology	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Lmod3^em1(IMPC)Mbp	HET	Late adult	0.00
decreased grip strength	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Lmod3^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged heart	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal startle reflex	Lmod3^em1(IMPC)Mbp	HOM	Early adult	2.21×10^-05
abnormal spleen morphology	Lmod3^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal vocalization	Lmod3^em1(IMPC)Mbp	HOM	Early adult	5.69×10^-08
increased hematocrit	Lmod3^em1(IMPC)Mbp	HET	Late adult	3.27×10^-06
abnormal kidney morphology	Lmod3^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged thymus	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Lmod3^em1(IMPC)Mbp	HOM	Early adult	1.43×10^-12
increased lean body mass	Lmod3^em1(IMPC)Mbp	HOM	Early adult	3.86×10^-06
abnormal adrenal gland morphology	Lmod3^em1(IMPC)Mbp	HET	Early adult	0.00
decreased circulating HDL cholesterol level	Lmod3^em1(IMPC)Mbp	HOM	Early adult	4.56×10^-05
increased total body fat amount	Lmod3^em1(IMPC)Mbp	HOM	Early adult	1.03×10^-05
enlarged kidney	Lmod3^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal coat/hair pigmentation	Lmod3^em1(IMPC)Mbp	HET	Early adult	2.92×10^-05
increased blood urea nitrogen level	Lmod3^em1(IMPC)Mbp	HET	Late adult	2.14×10^-05
abnormal skin morphology	Lmod3^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged urinary bladder	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating insulin level	Lmod3^em1(IMPC)Mbp	HOM	Early adult	7.95×10^-05
small kidney	Lmod3^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Lmod3^em1(IMPC)Mbp	HET	Early adult	0.00
decreased startle reflex	Lmod3^em1(IMPC)Mbp	HOM	Early adult	8.69×10^-08
decreased lean body mass	Lmod3^em1(IMPC)Mbp	HOM	Early adult	8.13×10^-07
abnormal cholesterol homeostasis	Lmod3^em1(IMPC)Mbp	HOM	Early adult	4.02×10^-05
increased hemoglobin content	Lmod3^em1(IMPC)Mbp	HET	Late adult	5.11×10^-06
small heart	Lmod3^em1(IMPC)Mbp	HET	Late adult	0.00
decreased prepulse inhibition	Lmod3^em1(IMPC)Mbp	HOM	Early adult	1.41×10^-14
abnormal heart morphology	Lmod3^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal urinary bladder morphology	Lmod3^em1(IMPC)Mbp	HOM	Early adult	0.00

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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.

MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

5 Images

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Human diseases caused by Lmod3 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 Lmod3 (3 diseases)
Human diseases predicted to be associated with Lmod3 (1556 diseases)

The table below shows human diseases associated to Lmod3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Nemaline Myopathy 10	Generalized muscle weakness, Bulbar palsy, Facial palsy, Nemaline bodies, Congenital contracture,...	OMIM:616165
Typical Nemaline Myopathy	Fatigable weakness of respiratory muscles, Facial diplegia, Facial palsy, Nemaline bodies, Arthro...	ORPHA:171436
Severe Congenital Nemaline Myopathy	Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult...	ORPHA:171430

The table below shows human diseases predicted to be associated to Lmod3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polyglucosan Body Myopathy 2	Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi...	OMIM:616199
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b...	OMIM:609200
Myopathy, Sarcoplasmic Body	Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe...	OMIM:620286
Spinal Muscular Atrophy, Type Iv	Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas...	OMIM:271150
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,...	OMIM:618655
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap...	OMIM:301075
Myopathy, Vacuolar, With Casq1 Aggregates	Proximal muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness	OMIM:616231
Inclusion Body Myositis	Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Proxim...	ORPHA:611
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim...	OMIM:158600
Nonaka Myopathy	Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr...	OMIM:605820
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C...	OMIM:615424
Myopathy, Distal, With Rimmed Vacuoles	Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG...	OMIM:617158
Myopathy, Distal, Tateyama Type	Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce...	OMIM:614321
Tubular Aggregate Myopathy	Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi...	ORPHA:2593
Myopathy, Distal, 5	Muscle fiber splitting, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Dis...	OMIM:617030
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame...	OMIM:612999
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles, Distal muscle weakness	OMIM:604454
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability...	OMIM:619733
Tibial Muscular Dystrophy	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce...	ORPHA:609
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr...	OMIM:617760
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Scapuloperoneal weakness, Shoulder girdle muscle atrophy, Peroneal muscle atroph...	OMIM:181400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Distal amyotrophy, Nonprogressive muscular atrophy	ORPHA:1216
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, Z-band streaming, EMG: myopathic abnor...	OMIM:619178
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor...	ORPHA:602
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari...	OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In...	OMIM:254110
Aids Wasting Syndrome	Cachexia, Skeletal muscle atrophy, Weight loss	ORPHA:90081
Hereditary Myopathy With Early Respiratory Failure	Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m...	ORPHA:178464
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Rhabdomyolysis, Susceptibility To, 1	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,...	OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm...	OMIM:608423
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Neck flexor weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness,...	ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central...	OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Muscle fiber necrosis, Increased v...	OMIM:618848
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate...	OMIM:601846
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Neck muscle weakness, Scapular winging, Angulated muscle fibers, Weakness of facial musculature, ...	OMIM:619477
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert...	OMIM:611705
Inclusion Body Myositis	Proximal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Distal muscle weakness	OMIM:147421
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Myopathy, Scapulohumeroperoneal	Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ...	OMIM:616852
Muscular Dystrophy, Limb-Girdle, Type 1H	Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder...	OMIM:613530
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Ragged-red muscle fibers, Facial palsy, Short stature, Neck flexor weakness, Proximal muscle weak...	OMIM:616209
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio...	OMIM:609115
Myopathy, Centronuclear, 1	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle...	OMIM:160150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:618992
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance, Muscle weakness	OMIM:616304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist...	OMIM:601954
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance	OMIM:614807
Mitochondrial Myopathy With Diabetes	Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, Weakness of orbicularis oculi muscl...	OMIM:500002
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Oculopharyngodistal Myopathy 2	External ophthalmoplegia, Bulbar palsy, Rimmed vacuoles, EMG: myopathic abnormalities, Distal mus...	OMIM:618940
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Hip flexor weakness, Reduced maximal inspiratory pressure, Fatty replacement of skeletal muscle, ...	ORPHA:266
Oculopharyngeal Muscular Dystrophy 1	Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, Limb muscle weakness, Distal muscle...	OMIM:164300
Distal Myopathy, Welander Type	Distal upper limb muscle weakness, Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic ...	ORPHA:603
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Fiber type grouping, Distal amyotrophy, Distal muscle weakness	OMIM:614369
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n...	OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, E...	OMIM:608099
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Muscle fiber hyaline bodies, Fourth heart sound, Right axis deviation, ...	OMIM:255160
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus...	OMIM:616228
Spinal Muscular Atrophy, Infantile, James Type	Distal amyotrophy, Short stature, Increased variability in muscle fiber diameter, Hip contracture...	OMIM:619042
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o...	OMIM:618823
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Neck muscle weakness, Muscle fiber inclusion bodies, Progres...	ORPHA:399058
Myopathy, Myofibrillar, 5	Proximal muscle weakness, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, My...	OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m...	OMIM:620375
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Premature ventricular contraction, Increased varia...	OMIM:617072
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus...	OMIM:611615
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Cardiomyopathy, Limb-girdle muscle...	ORPHA:86812
Distal Nebulin Myopathy	Ankle flexion contracture, Weakness of facial musculature, Progressive proximal muscle weakness, ...	ORPHA:399103
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Congenital Myopathy 3 With Rigid Spine	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Decreased body weight, Facia...	OMIM:602771
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus...	OMIM:620402
Zebra Body Myopathy	Muscle fiber splitting, Neck muscle weakness, Torticollis, Gowers sign, Rimmed vacuoles, Facial p...	ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen...	OMIM:616812
Moderate Multiminicore Disease With Hand Involvement	Distal upper limb muscle weakness, Generalized muscle weakness, Facial palsy, Axial muscle weakne...	ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle...	OMIM:608807
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy...	OMIM:620068
Myasthenic Syndrome, Congenital, 13	Proximal muscle weakness, Muscle fiber tubular inclusions, Fatigable weakness	OMIM:614750
Myasthenic Syndrome, Congenital, 12	Neck muscle weakness, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Facial palsy, Pr...	OMIM:610542
Distal Myopathy With Anterior Tibial Onset	Progressive proximal muscle weakness, Weakness of the intrinsic hand muscles, Absent muscle fiber...	ORPHA:178400
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Congenital Myopathy 20	Scapular winging, Nemaline bodies, Congenital contracture, Failure to thrive, Centrally nucleated...	OMIM:620310
Multiminicore Myopathy	External ophthalmoplegia, Proximal muscle weakness in upper limbs, Muscular dystrophy, Distal mus...	ORPHA:598
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Muscle...	OMIM:620452
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Weakness of facial...	OMIM:618654
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Facial palsy, Decreased body weight, Short stature, Type 1 fibers rela...	OMIM:300580
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Generalized muscle weakness, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, In...	ORPHA:34516
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ...	ORPHA:206549
Nemaline Myopathy 6	Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Neck flexor weaknes...	OMIM:609273
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel...	OMIM:615422
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp...	OMIM:300696
Miyoshi Muscular Dystrophy 1	Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal mu...	OMIM:254130
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ...	OMIM:617066
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy	OMIM:609500
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi...	OMIM:618484
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Gowers sign, Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased v...	OMIM:620386
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Generalized muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities...	OMIM:609283
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Mitochondrial Myopathy, Infantile, Transient	Increased muscle glycogen content, Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, ...	OMIM:500009
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Cachexia, Flexion contracture, Skeletal muscle atrophy, Arrhythmia, Myo...	ORPHA:157973
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Failure to thrive, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati...	OMIM:255310
Congenital Myopathy 6 With Ophthalmoplegia	Neck muscle weakness, Generalized muscle weakness, Muscle fiber inclusion bodies, Scapular wingin...	OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W...	OMIM:619566
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet...	OMIM:620138
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ragged-red muscle fibers, Scapular winging, Progressive external ophthalmoplegia, Skeletal muscle...	OMIM:617069
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Myopathy, Distal, 1	Distal lower limb muscle weakness, Neck muscle weakness, Ragged-red muscle fibers, Tibialis anter...	OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i...	OMIM:253601
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Diaphragmatic weakness, Calf muscle hypertrophy, Rimmed vacuoles, Scapula...	OMIM:603689
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Pr...	OMIM:612937
Nemaline Myopathy 5C, Autosomal Dominant	Poor head control, Type 1 muscle fiber predominance, Gowers sign, Scapular winging, Nemaline bodi...	OMIM:620389
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Delayed puberty, Multiple joint contractures, EMG: myopathic abnormalities, Limb muscle weakness,...	ORPHA:486815
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Poor head control, Increased variability in muscle fiber diameter, Respiratory insufficiency due ...	OMIM:300717
Myopathy, Distal, 4	Distal upper limb amyotrophy, Thenar muscle weakness, Skeletal muscle atrophy, Muscle weakness, P...	OMIM:614065
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Short stature, Failure to thrive, Centrally nucleated skeletal muscle fibers, Sk...	OMIM:619518
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame...	OMIM:614302
Spinal Muscular Atrophy, Facioscapulohumeral Type	Spinal muscular atrophy, Skeletal muscle atrophy	OMIM:182970
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Oculopharyngeal Muscular Dystrophy	Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmoplegia, Abnormal muscle fiber morphology, Myo...	ORPHA:270
Congenital Myopathy 23	Neck muscle weakness, Gowers sign, Facial diplegia, Scapular winging, Nemaline bodies, Limb muscl...	OMIM:609285
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ...	OMIM:613204
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Gowers sign, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, R...	ORPHA:280333
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, Neck muscle weakness, Late-onset proximal muscle weak...	OMIM:608810
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb muscle weakness, Neck muscle weakness, Generalized muscle weakness, Facial dipl...	OMIM:609284
Congenital Myopathy 14	Neck muscle weakness, Generalized muscle weakness, Weakness of facial musculature, Elbow flexion ...	OMIM:618414
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe...	OMIM:300718
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Muscle fiber splitting, Poor head control, Fatigable weakness, Facial palsy, Limb muscle weakness...	OMIM:616313
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Cachexia, Slender build, Weight loss	OMIM:613662
Finnish Upper Limb-Onset Distal Myopathy	Amyotrophy of ankle musculature, Rimmed vacuoles, Progressive proximal muscle weakness, EMG: myop...	ORPHA:399086
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr...	OMIM:300559
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Myopathy, Distal, 3	Muscular dystrophy, Late-onset proximal muscle weakness, Distal amyotrophy, Rimmed vacuoles, EMG:...	OMIM:610099
Congenital Myopathy With Myasthenic-Like Onset	Type 1 muscle fiber predominance, Fatigable weakness, Scapular winging, EMG: myopathic abnormalit...	ORPHA:424107
Congenital Myopathy 1B, Autosomal Recessive	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie...	OMIM:255320
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs	ORPHA:1878
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Progressive muscle weakness, Progressive proximal muscle weakness, Autoph...	OMIM:609452
Muscular Dystrophy, Congenital, Lmna-Related	Proximal upper limb amyotrophy, Poor head control, Muscular dystrophy, Neck muscle weakness, Uppe...	OMIM:613205
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia	OMIM:201710
Myopathy, Tubular Aggregate, 1	Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con...	OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Macroglossia,...	OMIM:616052
Myopathy, Centronuclear, 2	Facial palsy, Scapular winging, EMG: myopathic abnormalities, Generalized amyotrophy, Centrally n...	OMIM:255200
Nemaline Myopathy 2	Sternocleidomastoid amyotrophy, Respiratory insufficiency due to muscle weakness, Muscle fiber sp...	OMIM:256030
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul...	ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Muscular dystrophy, Bulbar palsy, Gowers sign, Rimmed vacuoles, Facial pa...	OMIM:603511
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
X-Linked Centronuclear Myopathy	Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ...	ORPHA:596
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Failure to thrive in infancy, Increased variability in muscle fiber diameter, Incr...	OMIM:619065
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila...	OMIM:615959
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ragged-red muscle fibers, Progressive external ophthalmoplegia, Distal muscle weakness, Rhabdomyo...	OMIM:617070
Distal Myotilinopathy	Distal amyotrophy, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Abnormal m...	ORPHA:98911
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr...	ORPHA:401768
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l...	OMIM:616924
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy	OMIM:616471
Nemaline Myopathy 7	Neck muscle weakness, Knee flexion contracture, Weakness of facial musculature, Gowers sign, Nema...	OMIM:610687
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Progressive proximal muscle weakness, Abnormal mitochondria in muscle t...	ORPHA:663
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
King-Denborough Syndrome	Short stature, Failure to thrive, Centrally nucleated skeletal muscle fibers, Muscle fiber atroph...	OMIM:619542
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Marinesco-Sjogren Syndrome	Rimmed vacuoles, Short stature, Failure to thrive, Centrally nucleated skeletal muscle fibers, Sk...	OMIM:248800
Merrf	Ragged-red muscle fibers, Myopathy, Short stature	ORPHA:551
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology	ORPHA:3319
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Diaphragmatic weakness, Fatigable weakness, Generalized muscle weakness, Upper limb muscle weakne...	OMIM:601462
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ...	OMIM:620542
Myopathy, Myofibrillar, 8	Central core regions in muscle fibers, Joint contracture of the 5th finger, Scapular winging, Nem...	OMIM:617258
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial ...	OMIM:620265
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak...	OMIM:619473
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Distal amyotrophy, Progressive proximal muscle weakness, Facial palsy, Rimmed vacuoles, Scapular ...	OMIM:167320
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Combined Oxidative Phosphorylation Deficiency 6	Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrop...	OMIM:300816
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat...	OMIM:608340
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Congenital contracture, Centrally nucleated skeletal muscle fibers, Flexion c...	OMIM:615368
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle...	OMIM:619903
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Hirsutism, Enlarged polycystic ovaries, Elevated circulating growth hormone conc...	ORPHA:90301
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Nemaline Myopathy 10	Generalized muscle weakness, Bulbar palsy, Facial palsy, Nemaline bodies, Congenital contracture,...	OMIM:616165
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Myopathy, Muscle weakness	OMIM:545000
Myopathy, X-Linked, With Excessive Autophagy	Gowers sign, Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle a...	OMIM:310440
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Type 1 muscle fiber predominance, Progressive muscle weakness, Shoulder flexion contracture, Nema...	OMIM:605355
Mulibrey Nanism	Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Congenital Myopathy 10A, Severe Variant	Diaphragmatic weakness, Poor head control, Diaphragmatic paralysis, Facial palsy, EMG: myopathic ...	OMIM:614399
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Generalized limb muscle atrophy, Fatty replacement of ske...	OMIM:620249
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Failure to thrive, Increased variability in muscle fiber diameter, Cardiomyopathy	OMIM:613752
Amish Nemaline Myopathy	Progressive muscle weakness, Shoulder flexion contracture, EMG: myopathic abnormalities, Hip cont...	ORPHA:98902
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Muscular dystrophy, Skeletal muscle hypertrophy, Gowers sign, Calf muscle hypertrophy, Increased ...	OMIM:613157
Congenital Myasthenic Syndromes With Glycosylation Defect	Poor head control, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Facial palsy, Scapu...	ORPHA:353327
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Elevat...	OMIM:617872
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Neck muscle weakness, Generalized muscle weakness, Bulbar palsy, Gowers sign, Facial palsy, Limb ...	OMIM:608930
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle...	OMIM:618138
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abno...	ORPHA:169189
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Failure to thrive, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Mus...	OMIM:618276
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Dpm3-Cdg	Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Muscle weakness, Pelvic girdle musc...	ORPHA:263494
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Flexion co...	OMIM:607855
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:263400
Congenital Myopathy 2A, Typical, Autosomal Dominant	Late-onset distal muscle weakness, Generalized muscle weakness, Bulbar palsy, Facial palsy, EMG: ...	OMIM:161800
Congenital Multicore Myopathy With External Ophthalmoplegia	External ophthalmoplegia, Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle f...	ORPHA:98905
Myasthenic Syndrome, Congenital, 5	Neck muscle weakness, Fatigable weakness, Generalized muscle weakness, Limb muscle weakness, Resp...	OMIM:603034
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Ullrich Congenital Muscular Dystrophy	Diaphragmatic weakness, Torticollis, Generalized muscle weakness, Elbow flexion contracture, EMG:...	ORPHA:75840
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a...	ORPHA:34515
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Childhood-Onset Nemaline Myopathy	Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,...	ORPHA:171439
Congenital Myopathy 15	Camptodactyly, Tricuspid regurgitation, Increased variability in muscle fiber diameter, Weakness ...	OMIM:620161
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Laing Early-Onset Distal Myopathy	Neck muscle weakness, Progressive muscle weakness, Weakness of orbicularis oculi muscle, EMG: myo...	ORPHA:59135
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Oculopharyngodistal Myopathy 4	External ophthalmoplegia, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Dis...	OMIM:619790
Mitochondrial Complex I Deficiency, Nuclear Type 25	Intrauterine growth retardation, Failure to thrive, Myopathy, Nemaline bodies	OMIM:618246
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc...	ORPHA:353
Autosomal Recessive Centronuclear Myopathy	Facial diplegia, Facial palsy, Scapular winging, Generalized amyotrophy, Centrally nucleated skel...	ORPHA:169186
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypocholester...	OMIM:610539
Bethlem Muscular Dystrophy	Gowers sign, Progressive proximal muscle weakness, Wrist flexion contracture, Distal muscle weakn...	ORPHA:610
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit	ORPHA:284227
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Rimmed vacuoles, Hand muscle weakness, Increased variability i...	OMIM:606070
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612926
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Failure to thrive, Increased variability in muscle fiber diameter, I...	OMIM:617228
Classic Multiminicore Myopathy	Poor head control, Muscular dystrophy, Axial muscle weakness, Failure to thrive, Muscle fiber atr...	ORPHA:324604
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612924
Drug-Induced Lupus Erythematosus	Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:231111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Anemia, Hemolytic-...	OMIM:612925
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Riboflavin Transporter Deficiency	Cachexia, Hypertension, Facial palsy, Limb muscle weakness, Skeletal muscle atrophy	ORPHA:97229
Amyotrophic Lateral Sclerosis 27, Juvenile	Progressive muscle weakness, Generalized muscle weakness, Gowers sign, Scapular winging, Intrinsi...	OMIM:620285
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Muscular dystrophy, Ankle flexion contracture, Gowers sign, Hypoglycosylation of alpha-dystroglyc...	OMIM:613818
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Cachexia, Skeletal muscle atrophy	ORPHA:1933
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph...	ORPHA:352479
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Postsynaptic Congenital Myasthenic Syndromes	Hip flexor weakness, Fatigable weakness of respiratory muscles, Ankle weakness, Abnormality of ma...	ORPHA:98913
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen...	OMIM:619902
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscle fiber splitting, Muscular dystrophy, Short stature, Increased variability in muscle fiber ...	OMIM:226670
Mcdonough Syndrome	Short stature, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:2471
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus...	ORPHA:79299
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul...	ORPHA:206559
Nemaline Myopathy 8	Facial palsy, Nemaline bodies, Myofibrillar myopathy, Flexion contracture, Muscle weakness, Ophth...	OMIM:615348
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Congenital Myopathy 24	Gowers sign, Scapular winging, Facial palsy, Nemaline bodies, Muscle weakness, Type 1 muscle fibe...	OMIM:617336
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating iron concentration, Spleno...	OMIM:613313
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis...	OMIM:103900
Autoimmune Polyendocrinopathy Type 1	Hypopigmented skin patches, Abnormal circulating calcium-phosphate regulating hormone concentrati...	ORPHA:3453
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g...	ORPHA:119
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Limb muscle weakness, Increased variability in muscle fi...	OMIM:613954
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies	OMIM:615426
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Hypokalemic Periodic Paralysis	Fatigable weakness of respiratory muscles, Respiratory paralysis, Late-onset proximal muscle weak...	ORPHA:681
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Generalized muscle weakness, Inflammatory myopathy, Weakness of facial...	ORPHA:1145
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Fatigable weakness, Gowers sign, Facial palsy, Respiratory insufficiency due to muscle weakness, ...	OMIM:608931
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ragged-red muscle fibers, Growth delay, Failure to thrive, Generalized amyotrophy, Respiratory in...	OMIM:613561
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Generalized lipodystrophy, Tremo...	ORPHA:363400
Ullrich Congenital Muscular Dystrophy 2	Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac...	OMIM:616470
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,...	OMIM:613845
Congenital Myopathy 22A, Classic	Bradycardia, Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, ...	OMIM:620351
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j...	OMIM:274150
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Precocious puberty in females, H...	ORPHA:528
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Foot...	OMIM:619574
Central Core Disease	Type 1 muscle fiber predominance, Multiple joint contractures, Central core regions in muscle fib...	ORPHA:597
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle...	OMIM:310300
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Generalized muscle weakness, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of t...	ORPHA:206546
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Peroneal muscle weakness, Progressive muscle weakness, Skeletal muscle hypert...	OMIM:611588
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset ...	ORPHA:324575
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Oculogastrointestinal Muscular Dystrophy	Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Fatigable weakness, Bulbar palsy, Limb muscle weakness, Respiratory insufficiency due to muscle w...	OMIM:605809
Renpenning Syndrome	Cachexia, Growth delay, Severe short stature, Skeletal muscle atrophy, Diabetes mellitus	ORPHA:3242
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin...	OMIM:201910
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Distal arthrogryposis, Skeletal muscle atrophy, Arrhythmia, Hypoglycemia, Myopathy	ORPHA:42
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Lipodystrophy, Congenital Generalized, Type 4	Muscular dystrophy, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Skeletal muscle hypertr...	OMIM:613327
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Diaphragmatic paralysis, Distal muscle weakness, Fiber type grouping...	OMIM:620011
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Gowers sign, Facial diplegia, EMG: myopathic abnormalities, Limb muscle...	OMIM:609560
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band...	OMIM:617114
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Cap Myopathy	Poor head control, Lower limb amyotrophy, Gowers sign, Facial palsy, Increased variability in mus...	ORPHA:171881
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase...	OMIM:235400
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Mitochondrial Neurogastrointestinal Encephalomyopathy	Ragged-red muscle fibers, Cachexia, Abnormality of the extraocular muscles, Decreased muscle mass...	ORPHA:298
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hypermanganesemia With Dystonia 1	Cirrhosis, Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, ...	OMIM:613280
Christianson Syndrome	Cachexia, Decreased muscle mass, Arthrogryposis multiplex congenita	ORPHA:85278
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Flynn-Aird Syndrome	Cachexia, Type II diabetes mellitus, Skeletal muscle atrophy	ORPHA:2047
Scapuloperoneal Spinal Muscular Atrophy	Muscle fiber splitting, Diaphragmatic weakness, Peroneal muscle weakness, Torticollis, Amyoplasia...	OMIM:181405
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Myasthenic Syndrome, Congenital, 6, Presynaptic	Fatigable weakness, Bulbar palsy, Respiratory insufficiency due to muscle weakness, Arthrogryposi...	OMIM:254210
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy	OMIM:151800
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy	ORPHA:480
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske...	OMIM:616867
Intermediate Nemaline Myopathy	Generalized muscle weakness, Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemalin...	ORPHA:171433
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia	OMIM:620085
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr...	ORPHA:71526
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl...	OMIM:607459
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Progressive muscle weakness	OMIM:619024
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle glycogen content, Ragged-red muscle fibers, Muscle weakness, Increased muscle li...	ORPHA:254864
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,...	OMIM:254090
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Muscle weakness	OMIM:616794
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair	ORPHA:1355
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ragged-red muscle fibers, Myopathy, Growth delay	OMIM:618242
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea...	ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea...	ORPHA:276575
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim...	ORPHA:98897
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou...	OMIM:604367
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Polycystic ovaries...	ORPHA:79084
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea...	OMIM:601820
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Poor head control, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Fac...	OMIM:617519
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Rett Syndrome	Prolonged QTc interval, Cachexia, Short stature, Skeletal muscle atrophy, Abnormal T-wave	OMIM:312750
Glycogen Storage Disease Due To Aldolase A Deficiency	EMG: myopathic abnormalities, Growth delay, Skeletal myopathy, Muscle fiber atrophy, Exercise-ind...	ORPHA:57
Galactokinase Deficiency	Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper...	ORPHA:79237
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Cachexia, Hip contracture, Intrauterine growth retardation, Failure to thrive i...	OMIM:616801
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Juvenile Amyotrophic Lateral Sclerosis	Retrocollis, Lower-limb joint contracture, Cachexia, Distal amyotrophy, Upper-limb joint contract...	ORPHA:300605
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Joint hypermobility, Osteoporosis, Dorsocervical fat pad, Hyp...	OMIM:616033
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Tremor, ...	ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:256450
Combined Oxidative Phosphorylation Defect Type 13	Poor head control, Ankle flexion contracture, Failure to thrive, Lower limb hypertonia, Hip contr...	ORPHA:319514
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Adult-Onset Distal Myopathy Due To Vcp Mutation	Abnormality of the musculature of the lower limbs, Necrotizing myopathy, Rimmed vacuoles, Facial ...	ORPHA:329478
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Failure to thrive, Weight loss	OMIM:612075
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo...	OMIM:123320
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:300219
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Increased total iron binding capacity, Abnormal blood inorganic cation co...	ORPHA:309854
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus...	ORPHA:536516
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Gowers sign, Facial palsy, Muscle weakness, Increased endomysial connective t...	OMIM:602541
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Arthralgia/arthriti...	ORPHA:411593
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Abnormality of the kidney, Hypopigmentatio...	ORPHA:895
Lethal Congenital Contracture Syndrome 9	Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m...	OMIM:616503
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty replacement o...	ORPHA:397744
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Atrial sep...	OMIM:620211
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia, Elbow flexion contracture, EMG: myopathic abnormalities, Shor...	ORPHA:371364
Amyotrophic Lateral Sclerosis	Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Cachexia, Upper limb mu...	ORPHA:803
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Failure to thrive,...	OMIM:269920
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Proximal muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature	OMIM:618416
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased ...	OMIM:615830
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Hyperinsulinemi...	OMIM:151660
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Glutamate-Cysteine Ligase Deficiency	Jaundice, Reticulocytosis, Hepatosplenomegaly, Aminoaciduria, Hemolytic anemia	ORPHA:33574
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Hypophosphatemi...	ORPHA:263455
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Knee flexion contracture, Noncompaction cardiomyopathy, Dis...	ORPHA:3208
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno...	ORPHA:2905
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,...	OMIM:540000
Silver-Russell Syndrome	Postnatal growth retardation, Cachexia, Short stature, Obesity, Decreased muscle mass, Insulin re...	ORPHA:813
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat...	OMIM:263200
Mandibuloacral Dysplasia	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a...	ORPHA:2457
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Renal tubular dysfu...	OMIM:606528
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Failure to thrive...	OMIM:619461
Vocal Cord And Pharyngeal Distal Myopathy	Ankle weakness, Bulbar palsy, Distal upper limb amyotrophy, Rimmed vacuoles, Distal muscle weakne...	ORPHA:600
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Growth delay, Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexi...	OMIM:619026
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Short st...	ORPHA:52430
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Hyperins...	ORPHA:79086
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98855
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy	OMIM:125250
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Nemaline bodies	OMIM:619334
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypercholesterolemia, Hypocalcemia...	OMIM:612526
Ethanolaminosis	Cardiomegaly	OMIM:227150
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, EMG: myopathic abnormalities, Obesity, Achilles tendon contracture, Ske...	OMIM:615418
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Type I diabetes mellitus, Flexion contracture, Weight loss	ORPHA:1979
Neuropathy, Congenital Hypomyelinating, 3	Hypomimic face, Cachexia, Facial diplegia, Limb joint contracture, Flexion contracture, Arthrogry...	OMIM:618186
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Short stature, Ophthalmoplegia,...	OMIM:252011
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Axial muscle weakness, Flexion contracture, Minicore myopathy, Arthrogryposis multiplex congenita...	ORPHA:178148
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal...	ORPHA:79312
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Cardiomyopathy, Spinal muscular atrophy, Increased variability in muscl...	OMIM:616866
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscular dystrophy, Muscle fiber atrophy, Proximal muscle weakness, Limb-girdle muscular dystroph...	ORPHA:369840
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma...	ORPHA:90793
Perlman Syndrome	Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Hypoplasia of peni...	ORPHA:2849
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at...	OMIM:620278
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win...	OMIM:613507
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Immunodeficiency 53	Failure to thrive, Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir...	ORPHA:2298
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperpla...	ORPHA:276556
Insulinoma	Hyperinsulinemia, Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Increased body weight, ...	ORPHA:97279
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Maternal diabetes, Abnormality of skeletal muscle fiber size, Skeletal ...	ORPHA:79083
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism	OMIM:613677
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Impaired glucose tolerance, Joint stiffness, Hyperinsulinemia, Loss of subcutaneo...	OMIM:248370
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers, Ophthalmoparesis	OMIM:500003
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, S...	OMIM:602390
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Hirsutism, Low posterior hairline, Synophrys, Long eyelashes, Foca...	OMIM:617303
Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:98853
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cel...	OMIM:256550
Pulmonary Blastoma	Weight loss	ORPHA:64741
Immune-Mediated Necrotizing Myopathy	Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Axial muscle wea...	ORPHA:206569
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Protein...	ORPHA:251004
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Generalized limb muscle atrophy, Progressive muscle weakness, Ragged-red muscle ...	OMIM:600462
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Generalized muscular appearance ...	OMIM:608594
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, T lymphocytop...	OMIM:608971
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cystic angiomatosis of bone, Splenomegaly, Elevated hemoglobin A1c, Umbilic...	OMIM:269700
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Loss of facial adipose tissue, Loss of tr...	OMIM:608612
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Card...	OMIM:258450
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Ragged-red muscle fibers, Lower limb muscle weakness, Progressive external ophthalmoplegia, Axial...	OMIM:616479
Abcd Syndrome	Polycythemia	OMIM:600501
Focal Myositis	Myositis, Weight loss	ORPHA:48918
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98863
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Precocious puberty, Congenital posterior occ...	ORPHA:79414
Autosomal Recessive Progressive External Ophthalmoplegia	External ophthalmoplegia, Ragged-red muscle fibers, Facial palsy, Scapular winging, Hand muscle w...	ORPHA:254886
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno...	OMIM:617514
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Normocytic anemia, Renal tubular epithelial necrosis, Hematuria, Elevated ci...	ORPHA:49041
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Rhabdomyolysis, Weight loss	OMIM:188580
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Proteus Syndrome	Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splen...	OMIM:176920
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Tremor, Ascites, Osteoporosis, Splenomegaly, Flexion contracture, ...	ORPHA:87876
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity, Hyperinsulinemia	OMIM:618406
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Hyperinsulinemic Hypoglycemia, Familial, 6	Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce...	OMIM:606762
Deafness, Congenital, With Vitiligo And Achalasia	Short stature, Achalasia, Skeletal muscle atrophy	OMIM:221350
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:2348
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Obesity, Type II dia...	ORPHA:3085
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Renal salt wasting, Increased circulating androstenedione concentration, Penoscrotal hypospadias,...	ORPHA:90791
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Ragged-red muscle fibers, Facial palsy, Failure to thrive, Muscle w...	OMIM:606407
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, Left ventricular noncompac...	OMIM:619424
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Flexion contracture, Muscle weakness, Left ventricular hypertrophy,...	OMIM:616733
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cholelithiasis, Proximal tubu...	ORPHA:231222
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Mitochondrial Dna Depletion Syndrome 11	Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ...	OMIM:615084
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Spinocerebellar Ataxia 28	Ragged-red muscle fibers, Lower limb hypertonia, Ophthalmoparesis	OMIM:610246
Aredyld Syndrome	Cachexia, Short stature, Type II diabetes mellitus, Intrauterine growth retardation, Type I diabe...	ORPHA:1133
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Failure to thrive, Peri...	OMIM:608776
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Polycythemia, Papillary cystadenoma of the epididym...	OMIM:193300
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density, Increased insulin like growth...	OMIM:619489
Typical Nemaline Myopathy	Fatigable weakness of respiratory muscles, Facial diplegia, Facial palsy, Nemaline bodies, Arthro...	ORPHA:171436
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Distal renal tubular acidosis, Hypokalemia, Reticulocytosis, Nephrocalcinosis, Hepat...	OMIM:611590
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr...	OMIM:201810
Donohue Syndrome	Severe failure to thrive, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Cholestasis, Precoc...	OMIM:246200
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:251274
Fumarase Deficiency	Perimembranous ventricular septal defect, Intrahepatic cholestasis, Hyperbilirubinemia, Ascites, ...	OMIM:606812
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Myocardial necro...	OMIM:300257
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Giant cell hepatitis, Steat...	OMIM:607765
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic ...	ORPHA:35878
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Distal upper limb muscle weaknes...	OMIM:500013
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Ziegler-Huang Syndrome	Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Hypogonadism, Crypto...	OMIM:620501
Idiopathic Bronchiectasis	Cachexia, Myocardial infarction	ORPHA:60033
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Slender build, Weight loss	OMIM:603041
Livedoid Vasculopathy	Abnormal circulating lipid concentration, Anemia, Pancytopenia, Hyperhomocystinemia, Leukocytosis...	ORPHA:542643
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr...	ORPHA:54057
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure...	ORPHA:99886
Oculopharyngodistal Myopathy 1	External ophthalmoplegia, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, ...	OMIM:164310
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Paroxysmal Nocturnal Hemoglobinuria	Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Unconjugated hyperbilirub...	ORPHA:447
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hirsutism, Renal cell...	ORPHA:189427
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Recurrent ...	ORPHA:417
Congenital Toxoplasmosis	Jaundice, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly, Failure...	ORPHA:858
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Red hair, Decreased growth hormone respons...	OMIM:609734
Hereditary Renal Hypouricemia	Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Uric acid urolithiasis inde...	ORPHA:94088
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to thrive, Lymph no...	OMIM:602450
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, Congestive heart failure, Prolonged QT interval, Noncompaction card...	OMIM:610198
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ...	OMIM:219080
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Myositis, Cachexia, Hypotension, Pericarditis, Insulin ...	ORPHA:3452
Mody	Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Glucose intolerance, Ab...	ORPHA:552
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Cachexia, Skeletal muscle atrophy	ORPHA:1969
H Syndrome	Delayed puberty, Abnormality of the kidney, Enlarged kidney, Hyperpigmentation of the skin, Decre...	ORPHA:168569
Diaphanospondylodysostosis	Enlarged kidney, Hypoplastic fingernail, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney,...	OMIM:608022
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Reduced bone mineral density, Hypocalcemia, Cholestasis, Failure to thriv...	ORPHA:172
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Lower limb hypertonia, Upper limb muscle weakness, Lower limb muscle we...	ORPHA:99013
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Joint stiffness, Splenomegaly, Cardiomegaly, Hepatocellular carcinoma, Portal hyp...	ORPHA:465508
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal muscle atrophy, Increase...	OMIM:255125
Majeed Syndrome	Cachexia, Failure to thrive, Flexion contracture, Weight loss	ORPHA:77297
Down Syndrome	Atrioventricular canal defect, Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutr...	ORPHA:870
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Abnormality of the lymphatic sys...	ORPHA:1414
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Distal lower limb muscle weakness, Scapular winging, Tendon rupture, Fiber type grouping, Small t...	OMIM:620080
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Hepatocellular carcinoma, ...	OMIM:235200
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Failure to thrive, Muscle fiber atrophy, Flexion contracture	OMIM:620240
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Progressive external ophthalmoplegia, Generalized amyotrophy, Respirato...	ORPHA:352447
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Proximal tubulopathy, Cardiomyopathy, Pericarditis, Hypocholesterolemia, Hepatic ste...	OMIM:212065
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Cachexia	ORPHA:1438
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated urinary dopamine level, Increased blood urea nitrogen, Nocturia, Elevated circul...	ORPHA:230
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenomegaly, Hyper...	OMIM:619046
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Postprandial hyperglycemia, Long penis, Fasting hypoglycemia, Precocious pubert...	OMIM:262190
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Cachexia, Short stature, Skeletal muscle atrophy, Intracranial hemorrhage, Hypog...	ORPHA:109
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Microvesicula...	OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic...	OMIM:608836
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers, Ophthalmoparesis, Progressive external ophthalmoplegia, Muscle weakness	ORPHA:1349
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc...	ORPHA:732
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Reduced bone mineral density, Hepatomegaly, Joint stiffness, Leukopenia, Splenomegaly, Lymphopeni...	OMIM:620210
Tetrasomy 12P	Short stature, Cachexia	ORPHA:884
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Hepatomegaly, Polycystic kidney dysplasia, Pancreatic c...	OMIM:208540
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cel...	ORPHA:892
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co...	OMIM:615954
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ...	OMIM:617885
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis	ORPHA:88643
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Neutral Lipid Storage Myopathy	Generalized limb muscle atrophy, Neck muscle weakness, Gowers sign, Progressive proximal muscle w...	ORPHA:98908
Cockayne Syndrome Type 1	Hepatomegaly, Anemia, Cryptorchidism, Increased blood urea nitrogen, Proteinuria, Male hypogonadi...	ORPHA:90321
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia,...	OMIM:250790
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Myasthenic Syndrome, Congenital, 19	Poor head control, Bulbar palsy, Facial palsy, Distal muscle weakness, Axial muscle weakness, Inc...	OMIM:616720
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism	ORPHA:369929
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Estrogen Resistance Syndrome	Osteopenia, Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnorm...	ORPHA:785
Gaucher Disease Type 2	Flexion contracture, Dystonia, Splenomegaly, Hepatomegaly	ORPHA:77260
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Obesity And Hypopigmentation	Obesity, Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Free Sialic Acid Storage Disease	Hepatomegaly, Reduced bone mineral density, Athetosis, Ascites, Nephrotic syndrome, Proteinuria, ...	ORPHA:834
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum...	OMIM:202010
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Cardiomegaly, Bicuspid aortic valve, Perimembranous ven...	OMIM:300855
Glycogen Storage Disease Vii	Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Hyperuricemia, Elevated circ...	OMIM:232800
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Athetosis, Ascites...	OMIM:257200
Severe Congenital Nemaline Myopathy	Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult...	ORPHA:171430
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Abnormal circulating testosterone concentration, Hirsutism, Adrenal hyperplasia,...	ORPHA:786
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Facial palsy, Short stature, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Ophthalmo...	ORPHA:3068
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Failure to thrive, Hyperammonemia, Dystoni...	OMIM:614702
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Steatorrhea, Proximal tubulopathy, Renal cyst, Failure...	OMIM:602579
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco...	ORPHA:231580
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance	OMIM:619173
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia	ORPHA:329249
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities, Progressive ...	OMIM:609286
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Failure to thrive, Biliary tract abnormality, Sp...	ORPHA:79301
Idiopathic Achalasia	Weight loss	ORPHA:930
Obesity Due To Sim1 Deficiency	Obesity, Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Infantile Krabbe Disease	Cachexia, Failure to thrive, Shoulder girdle muscle weakness, Abnormal heart rate variability	ORPHA:206436
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly, Proxima...	ORPHA:280365
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, De...	ORPHA:71212
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Cachexia, Prolonged QRS complex, Pulmonary venous hypertension,...	ORPHA:75565
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me...	ORPHA:231226
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia	ORPHA:664
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Increased variability in muscle fiber diameter	OMIM:615595
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithi...	OMIM:232200
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Synaptic Congenital Myasthenic Syndromes	Poor head control, Neck muscle weakness, Generalized muscle weakness, Facial palsy, Scapular wing...	ORPHA:98915
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithi...	OMIM:232220
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Osteoporosis, Elevat...	OMIM:266510
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Leukocytosis, S...	ORPHA:37748
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Progressive muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities...	OMIM:157640
Wolman Disease	Growth delay, Cachexia	ORPHA:75233
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Squalene Synthase Deficiency	Hypospadias, Knee flexion contracture, Increased circulating farnesol concentration, Elevated uri...	OMIM:618156
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ...	ORPHA:79644
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ovarian gonadoblastoma, ...	OMIM:194080
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:615415
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Ataxia-Telangiectasia	Delayed puberty, Tremor, Abnormal testis morphology, Failure to thrive, Type II diabetes mellitus...	ORPHA:100
Pelizaeus-Merzbacher Disease	Short stature, Cachexia, Failure to thrive in infancy	ORPHA:702
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit...	ORPHA:231214
Optic Atrophy 11	Short stature, Increased variability in muscle fiber diameter, Fiber type grouping, Facial diplegia	OMIM:617302
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, H...	OMIM:278000
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Skeletal muscle hypertrophy, Ventricular hypertr...	OMIM:300280
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content, Muscle weakness	ORPHA:228302
Atypical Werner Syndrome	Delayed puberty, Lipoatrophy, Hypertriglyceridemia, Reduced bone mineral density, Calf muscle hyp...	ORPHA:79474
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Myositis, Arthritis, F...	OMIM:617591
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Cardiac arrest, Myopathy, Hypertrophic cardiomyop...	OMIM:604377
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hepatic s...	OMIM:203800
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Native American Myopathy	Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Short stature, ...	ORPHA:168572
Combined Oxidative Phosphorylation Deficiency 24	Ragged-red muscle fibers, Skeletal muscle atrophy, Muscle weakness, Weakness of facial musculatur...	OMIM:616239
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Prader-Willi Syndrome	Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline...	OMIM:176270
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Carney Complex, Type 1	Multiple lentigines, Thyroid carcinoma, Red hair, Pheochromocytoma, Hirsutism, Thyroid follicular...	OMIM:160980
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Presynaptic Congenital Myasthenic Syndromes	Poor head control, Distal lower limb muscle weakness, Neck muscle weakness, Fatigable weakness, G...	ORPHA:98914
Congenital Myasthenic Syndrome	Poor head control, Distal lower limb muscle weakness, Neck muscle weakness, Fatigable weakness, G...	ORPHA:590
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopigmentat...	ORPHA:177910
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Cachexia, Failure to thrive, Growth delay	ORPHA:217346
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple...	OMIM:269840
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular...	ORPHA:290
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,...	ORPHA:398124
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hypospadias, Congenital hypothyroidism, Cryptorchidism, Diabetes mellitus, Blue irides,...	OMIM:614613
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Cachexia, Obesity, Short stature	ORPHA:85293
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Myoglobinuria, Ketotic hypoglycemia, Increased body...	ORPHA:79240
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morphology, Limitation of j...	ORPHA:47612
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Myasthenia, Limb-Girdle, Autoimmune	Proximal amyotrophy, Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis	OMIM:159400
Eosinophilic Fasciitis	Myositis, Muscular edema, Weight loss	ORPHA:3165
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Reticulocytosis, Erythroid hyperplasia, Renal insufficiency, Hemo...	OMIM:300653
Rabson-Mendenhall Syndrome	Cardiomyopathy, Impaired glucose tolerance, Nephrocalcinosis, Increased pineal volume, Increased ...	ORPHA:769
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Estrogen Resistance	Delayed puberty, Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Breast ap...	OMIM:615363
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos...	ORPHA:98848
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Thick hair, Heavy proteinuria, Long eyelashes, Nephrotic syndrome, Abnormality o...	ORPHA:505248
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased muscle glycogen content, Weakness of facial musculature, EMG: myopathic abnormalities, ...	ORPHA:502423
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyper...	OMIM:612714
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, De...	ORPHA:95699
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Cardi...	OMIM:252920
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Portal fibrosis, Myoglobinuria, In...	ORPHA:264580
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Renal interstitial immunoglobulin de...	ORPHA:449395
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Bangstad Syndrome	Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno...	ORPHA:1227
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen...	OMIM:613490
Snakebite Envenomation	Hypotension, Muscle fiber necrosis, Cerebral ischemia, Rhabdomyolysis, Cardiogenic shock, Epistax...	ORPHA:449285
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy...	OMIM:618280
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Renal ins...	ORPHA:713
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Cryptorch...	OMIM:612651
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Cellulitis, Leukopenia, Hepato...	OMIM:618986
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsul...	ORPHA:79319
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Ascites, Decreased skull ossification, Hypertrophic cardiomyopathy, Mult...	OMIM:616897
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Adrenal gland agenesis	OMIM:611812
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Hemochromatosis, Type 3	Cirrhosis, Anemia, Arthritis, Cardiomyopathy, Increased circulating iron concentration, Lymphopen...	OMIM:604250
Potocki-Lupski Syndrome	Atrial septal defect, Patent foramen ovale, Hypothyroidism, Failure to thrive, Hypocholesterolemi...	OMIM:610883
X-Linked Creatine Transporter Deficiency	Short stature, Cachexia	ORPHA:52503
Congenital Fiber-Type Disproportion Myopathy	Respiratory insufficiency due to muscle weakness, Flexion contracture of finger, Poor head contro...	ORPHA:2020
Alg12-Cdg	Biventricular hypertrophy, Abnormal bone ossification, Muscular ventricular septal defect, Hyposp...	ORPHA:79324
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenome...	OMIM:618541
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Myopathy, Mitochondrial, And Ataxia	Short stature, Increased variability in muscle fiber diameter, Distal amyotrophy, Growth delay	OMIM:617675
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Schwartz-Jampel Syndrome	Flexion contracture of toe, Shoulder flexion contracture, Cachexia, Skeletal muscle hypertrophy, ...	ORPHA:800
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
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
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Path...	ORPHA:77259
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Pancreatic fibrosis, Cystic renal dysplasia, Hepatomegaly	OMIM:200995
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperpigmentation of the skin, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreas...	ORPHA:90790
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Hyperparathyroidism	OMIM:618188
Isolated Anencephaly	Congenital diaphragmatic hernia, Maternal diabetes, Adrenal hypoplasia, Omphalocele, Thymus hyper...	ORPHA:563609
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Neck muscle weakness, Myosit...	ORPHA:99845
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Limitation of ...	OMIM:228000
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Incr...	OMIM:259700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypo...	ORPHA:1655
Trisomy 18	Congenital diaphragmatic hernia, Cachexia, Short stature, Camptodactyly of finger, Growth delay, ...	ORPHA:3380
Kaposiform Lymphangiomatosis	Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pancreatic cysts	ORPHA:464329
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Failure to thrive, Splenomegal...	OMIM:609981
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Reticulocytosis, Cardi...	ORPHA:14
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Exaggerated startle response, Increased urinary N-acetylgluco...	OMIM:268800
Histiocytosis-Lymphadenopathy Plus Syndrome	Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr...	OMIM:602782
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Orthostatic Hypotension 1	Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Elevated circulating dihydroxyphenylacet...	OMIM:223360
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Cardiomyopathy, Short stature, Arrhythmia, Diabetes mellitus, Third deg...	OMIM:530000
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He...	ORPHA:294
Leprechaunism	Enlarged kidney, Hepatomegaly, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Hypercalciuria...	ORPHA:508
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Weight loss, Arrhythmia	ORPHA:85447
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Ehlers-Danlos Syndrome, Classic-Like, 1	Proximal muscle weakness, Muscle fiber splitting, Proximal amyotrophy	OMIM:606408
Cantu Syndrome	Large for gestational age, Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital ...	OMIM:239850
Rheumatoid Arthritis	Digital flexor tenosynovitis, Vasculitis, Weight loss	OMIM:180300
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, F...	ORPHA:2221
Proteus-Like Syndrome	Hyperostosis, Shagreen patch, Splenomegaly, Thymus hyperplasia, Subcutaneous lipoma, Polycystic o...	ORPHA:2969
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:300842
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Enamel hypoplasia, Myocardial fibrosis, Thickene...	OMIM:253250
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary, Hypoplastic nipples, Low posterior hairli...	ORPHA:79328
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Brittle hair, Hypopigmentation of the skin, Mucopolysacchariduria,...	OMIM:252500
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large for gestational age, Diastasis recti, Small for gestational age	ORPHA:254534
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Cryptorchidism, Microcytic anemia, Hypospadias	ORPHA:98791
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic seizures, Gen...	ORPHA:289157
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Weight loss, Osteolysis	ORPHA:391
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Failure to thrive, Absence of lymph node germinal center, L...	ORPHA:277
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Abnormal bone ossification, Loss of truncal subcutaneous adipose tissue, Hypoplasia o...	ORPHA:2463
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys...	OMIM:223900
Maternal Uniparental Disomy Of Chromosome 4	Diabetes insipidus, Calf muscle pseudohypertrophy, Neurogenic bladder, Decreased body weight, Ele...	ORPHA:96180
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Erythrokeratodermia Variabilis	Short stature, Diabetes mellitus, Weight loss	ORPHA:317
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Generalized lipodystrophy, Lymphadenopathy, Panniculit...	OMIM:619183
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Late-onset proximal muscle weakness, Episodic flaccid weakness, Abnormal m...	ORPHA:79102
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Xfe Progeroid Syndrome	Cachexia, Failure to thrive, Hypertension, Severe short stature	OMIM:610965
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon...	OMIM:619991
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Weight loss	ORPHA:142
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis	ORPHA:96181
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive ...	OMIM:612852
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Limb hypertonia, Hyperalaninemia, Cardiomegaly, Hyperpr...	OMIM:619170
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Woodhouse-Sakati Syndrome	Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline...	ORPHA:3464
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Stiff-Person Syndrome	Anemia, Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Exaggerated startle res...	OMIM:184850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Thyroiditis, Nephrol...	ORPHA:79259
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hematochezia	OMIM:175500
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand	OMIM:175700
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly	ORPHA:79128
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Bicornuate ute...	OMIM:601186
Lethal Congenital Contracture Syndrome 10	Stiff neck, Torticollis, Ventricular septal defect, Hypoplasia of the thymus, Omphalocele, Increa...	OMIM:617022
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis	ORPHA:276280
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Increased size of nasopharyngeal adenoids, Ventricular septal defect, Persi...	OMIM:619769
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Decreas...	OMIM:201475
Myotonic Dystrophy 2	Neck flexor weakness, Sternocleidomastoid amyotrophy, Generalized amyotrophy, Weakness of facial ...	OMIM:602668
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Nijmegen Breakage Syndrome	Short stature, Cachexia, Rhabdomyosarcoma, Skeletal muscle atrophy	ORPHA:647
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Dystonia, Cardiomegaly, Hypoglycemia, Choreoathetosi...	ORPHA:391428
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp...	OMIM:246700
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Hyperalaninemia, Cardiomegaly, Failure to thrive in infancy, Hyperprolinemia	OMIM:619064
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:2198
Camurati-Engelmann Disease	Delayed puberty, Cachexia, Facial palsy, Hypertrophic cardiomyopathy, Slender build, Skeletal mus...	ORPHA:1328
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Myopathy, Neutropenia...	OMIM:612541
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Failure to thrive, Generalized amyotrophy,...	OMIM:230000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb hypertonia, Patent foramen ovale, Tremor, Exaggerated startle response, Hydronephrosis, Limb...	OMIM:620327
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow...	ORPHA:549
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Cachexia, Type I diabetes mellitus, Failure to thrive in infancy	ORPHA:37042
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h...	OMIM:260400
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Hepatomegaly, Cr...	ORPHA:525731
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Tremor, Splenomegaly, Skeletal mus...	ORPHA:3162
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Sneddon Syndrome	Atrophic scars, Tremor, Facial palsy, Lymphopenia, Bicuspid aortic valve	OMIM:182410
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia, Elevated circulating cr...	OMIM:600649
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles...	OMIM:616834
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Chylomicron Retention Disease	Steatorrhea, EMG: myopathic abnormalities, Increased hepatocellular lipid droplets, Failure to th...	ORPHA:71
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Muscular dystrophy, Increased variability in muscle fiber diameter	OMIM:616538
Immunodeficiency 10	Autoimmune hemolytic anemia, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Hypoglycemia...	OMIM:612783
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Growth delay, Failure to thrive, Rhabdomyo...	ORPHA:17
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Ly...	ORPHA:486
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Limb hypertonia, Cachexia, Hypertension, Retinal h...	ORPHA:191
Fucosidosis	Lipoatrophy, Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Failure to thri...	ORPHA:349
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Decreased body weight, Ascites, Opisthotonus, Splenomegaly, Hepatosplenomeg...	OMIM:608013
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop...	ORPHA:859
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Craniofaciofrontodigital Syndrome	Osteopenia, Large for gestational age, Bicuspid aortic valve, Abnormal heart valve morphology, Ve...	ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol level,...	OMIM:618838
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve prolapse, Hypogonadis...	ORPHA:251066
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Impair...	OMIM:256040
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Flexion contracture, Exaggerated startle response	OMIM:618201
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Arthritis, Increased body weight, Hep...	ORPHA:905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased variability in...	OMIM:613150
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Glomer...	ORPHA:99931
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Leukocyte Adhesion Deficiency	Vaginitis, Hemolytic-uremic syndrome, Acute myeloid leukemia, Recurrent tonsillitis, Leukocytosis...	ORPHA:2968
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Enamel hypoplasia	OMIM:613576
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Radial club hand, Adrenal hypoplasia, Decreased body weight, M...	OMIM:617053
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti...	ORPHA:331206
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Renal insuff...	OMIM:203300
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Abnormalit...	ORPHA:565612
Tangier Disease	Hypertriglyceridemia, Anemia, Facial diplegia, Chronic noninfectious lymphadenopathy, Coronary ar...	ORPHA:31150
Sandhoff Disease, Infantile Form	Mitral valve prolapse, Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Cryptorchidism...	OMIM:235255
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Osteopenia, Hepatomegaly, Impaired lymphocyte trans...	OMIM:614162
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G...	OMIM:273250
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce...	ORPHA:2686
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Focal segmental glomerulosclerosis, Cryptorchidism, Nephrotic...	OMIM:617575
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Osteopenia, Hepatomegaly, Splenic...	OMIM:610199
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Renal tubular epithelial necrosis, Decreased glomerular fi...	ORPHA:91500
Wilson Disease	Portal fibrosis, Ascites, Limb dystonia, Splenomegaly, High nonceruloplasmin-bound serum copper, ...	OMIM:277900
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Short stature, Growth delay, Obesit...	ORPHA:251071
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Tetralogy of Fallot, Thrombocytopenia, Horseshoe kidney, Abnormal cardiac ...	ORPHA:3320
Takayasu Arteritis	Vasculitis, Hypertension, Hypertensive crisis, Cerebral ischemia, Pulmonary arterial hypertension...	ORPHA:3287
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Myositis, Facial palsy, Decreased body weight, Muscle fiber atrophy, Flexion ...	ORPHA:258
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal lower limb amyotrophy, Distal amyotrophy, Multiple joint contractures, Exaggerated startle...	ORPHA:320406
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Abnormality of iron homeost...	ORPHA:84064
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Seckel Syndrome	Intrauterine growth retardation, Cachexia, Short stature	ORPHA:808
Long-Olsen-Distelmaier Syndrome	Failure to thrive, Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Hypoglycemia, Ven...	OMIM:620609
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine, Hype...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 12	Ragged-red muscle fibers, Failure to thrive, Ophthalmoplegia, Poor head control	OMIM:614924
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Weight loss	ORPHA:50251
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating...	OMIM:617099
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit...	OMIM:251880
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Transient ...	OMIM:255120
Helsmoortel-Van Der Aa Syndrome	High anterior hairline, Decreased response to growth hormone stimulation test, Enlarged kidney, R...	OMIM:615873
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Steinert Myotonic Dystrophy	Facial diplegia, Abnormality of the tongue muscle, Decreased response to growth hormone stimulati...	ORPHA:273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Atrial septal defect, Transposition of the great arteries, Calf muscle hypert...	OMIM:253800
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis, Hydrocele testis	OMIM:618810
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion, Cardiomyop...	ORPHA:79255
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Joint stiffness, Leukopenia, Splenomega...	ORPHA:355
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P...	ORPHA:3109
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Myositis, Joint stiffness, Failure...	OMIM:615934
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Lacrimal gland hypoplasia, Heterochromia i...	OMIM:613266
Hirschsprung Disease	Short stature, Failure to thrive in infancy, Weight loss	ORPHA:388
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Tremor, Leukopenia, Splenomega...	OMIM:214500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contracture, Thymus hyp...	OMIM:619036
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles...	ORPHA:330015
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Hypertrophic cardiomyopathy, Severe short-limb dwarfism, Failure to thrive, Weight loss	ORPHA:1842
Neuromuscular Oculoauditory Syndrome	Poor head control, Calf muscle hypertrophy, EMG: myopathic abnormalities, Wrist flexion contractu...	OMIM:618733
Marfan Syndrome	Congestive heart failure, Abnormal left ventricular function, Aortic regurgitation, Cachexia, Sle...	ORPHA:558
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal heart valve morphology, P...	ORPHA:781
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Spl...	OMIM:239200
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells...	ORPHA:1830
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Abnormality of iron homeostasis, Hy...	OMIM:222470
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Mogs-Cdg	Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hypothyroidism, Dystonia, Hepatosplen...	ORPHA:79330
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Distal amyotrophy, Flexion contracture, Exaggerated startle response	OMIM:609541
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Weight loss	ORPHA:90003
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Obesity, Splenomegaly, Lymphopenia, Joint hypermobility,...	OMIM:605309
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Mucopolysaccharidosis Type 3	Hepatomegaly, Reduced bone mineral density, Abnormal aortic valve morphology, Recurrent tonsillit...	ORPHA:581
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Osteo...	OMIM:242900
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Microsporidiosis	Myositis, Cachexia, Myocarditis, Weight loss	ORPHA:2552
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Non-Functioning Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:94080
Cushing Disease	Hyperpigmentation of the skin, Hirsutism, Sparse scalp hair, Adrenal hyperplasia, Pituitary corti...	ORPHA:96253
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c...	ORPHA:3261
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Myositis, Arthritis, Joi...	ORPHA:809
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Limb hy...	OMIM:259720
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited elbow movement, Limited knee flexion/extension, Proximal muscle weakness in upper limbs, ...	ORPHA:268
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen c...	OMIM:613027
Stiff Person Spectrum Disorder	Hypothyroidism, Diabetes mellitus, Paraspinal muscle hypertrophy, Exaggerated startle response	ORPHA:3198
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Recurrent fractures, Osteop...	OMIM:222700
Huntington Disease-Like 2	Weight loss	OMIM:606438
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Hypospad...	OMIM:301040
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Osteopenia, Bicuspid aortic valve, Inguinal hernia, Joint hyperm...	OMIM:245600
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:616881
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Hyperammonemia, Splenomegaly, Hep...	OMIM:618641
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Hypoglycem...	OMIM:601005
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Prolonged neonatal jaundice, Splenomegaly, Joint...	OMIM:619418
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Generalized aminoaciduria, Hypotriglyceridemia, Lingual dystonia, A...	ORPHA:404454
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Reticulocytosis, Unconjugat...	ORPHA:90038
Overlap Myositis	Proximal muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper ...	ORPHA:206572
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Ectopic kidney, Biliary...	ORPHA:99413
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Melena, Cachexia, Short stature, Hematochezia, Intestinal bleeding	ORPHA:79076
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Ectopic kidney, Biliary...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Ectopic kidney, Biliary...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Ectopic kidney, Biliary...	ORPHA:881
Ataxia-Telangiectasia	Delayed puberty, Glucose intolerance, Tremor, Hypoplasia of the thymus, Intention tremor, T lymph...	OMIM:208900
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Elev...	OMIM:614921
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Glycogen Storage Disease Ii	Increased muscle glycogen content, Urinary incontinence, Hepatomegaly, Increased circulating NT-p...	OMIM:232300
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome...	ORPHA:699
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Proteus Syndrome	Irregular hyperpigmentation, Enlarged kidney, Ovarian neoplasm, Long penis, Abnormality of the na...	ORPHA:744
Polyarteritis Nodosa	Hypertension, Cardiomyopathy, Pericarditis, Raynaud phenomenon, Weight loss	ORPHA:767
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia	ORPHA:500095
Pyomyositis	Myositis, Sudden cardiac death, Weight loss	ORPHA:764
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Refsum Disease, Classic	Cardiomyopathy, Limb muscle weakness, Elevated circulating phytanic acid concentration, Abnormal ...	OMIM:266500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Small for gestational age, Delayed epiphyseal ossification	OMIM:613320
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v...	ORPHA:330001
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Hypoplasia of penis, Male pseudohermaphroditism, Abnormality of the male genitalia, Hydro...	ORPHA:847
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Lysosomal Acid Lipase Deficiency	Cachexia, Hypotension, Pulmonary arterial hypertension, Hypovolemia, Failure to thrive, Weight loss	ORPHA:275761
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Myositis, Arthritis, Ascites, Nephrotic syndrome, Pericardial effusio...	ORPHA:93552
Aicardi-Goutières Syndrome	Lipoatrophy, Panniculitis, Multiple joint contractures, Chronic lymphatic leukemia, Myositis, Art...	ORPHA:51
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Pancytopenia, Elevated circulating C-reactiv...	OMIM:615688
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Weight loss	ORPHA:1164
Stickler Syndrome	Cachexia, Short stature, Slender build, Skeletal muscle atrophy, Arrhythmia, Macroglossia	ORPHA:828
Goodpasture Syndrome	Anemia, Cylindruria, Increased blood urea nitrogen, Proteinuria, Macroscopic hematuria, Renal ins...	OMIM:233450
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells...	ORPHA:169160
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Thymoma	Aplastic anemia, Prostate neoplasm, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuke...	ORPHA:99867
Juvenile Dermatomyositis	Calcinosis, Gastrointestinal hemorrhage, Myositis, Vasculitis, Angina pectoris, Cardiomyopathy, P...	ORPHA:93672
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme...	ORPHA:999
Immunodeficiency 9	Amelogenesis imperfecta, Abnormal natural killer cell count, Hypoplasia of the thymus, Failure to...	OMIM:612782
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Suprava...	OMIM:620185
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Tay-Sachs Disease	Limited elbow extension, Hip flexor weakness, Increased serum beta-hexosaminidase, Tremor, Limite...	ORPHA:845
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Nephrotic syndr...	OMIM:617713
Coenzyme Q10 Deficiency, Primary, 1	Ragged-red muscle fibers, Progressive muscle weakness, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Myositis, Vasculitis, Hypertension, Transient ischemic att...	ORPHA:183
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hypospadias, Unilateral renal agenesis, Hyperurice...	OMIM:137920
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, T lymphocytopenia, Failure to thrive, Hepatosplenomegaly, Aplasia of the thymus, Abn...	OMIM:242700
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Hypopigmentation of hair, Abnormality of hair texture, Vesicou...	ORPHA:96169
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Hypovolemia, Failure to thrive, Glycosuria, Hyperglycemia, Weight l...	ORPHA:99885
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Myopathy, Normochromic anemia, Macrocytic ...	OMIM:615512
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Small pituitary gland, Hypopigmentation of hair, Hypopigmentation of the skin...	ORPHA:398079
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Tremor, Decreased testicular size, Failure to thrive, Splenomegaly, Hypogonadism, D...	OMIM:201100
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Idiopathic Camptocormia	Fatty replacement of skeletal muscle, Fatigable weakness of skeletal muscles, Myositis, EMG: myop...	ORPHA:1320
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, External ophthalmoplegia, Ragged-red muscle fibers, Facial diplegia, Facial palsy...	ORPHA:254892
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy...	ORPHA:29073
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:617864
Relapsing Fever	Acute kidney injury, Jaundice, Hematuria, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:91547
Gm1 Gangliosidosis	Congestive heart failure, Cardiomyopathy, Short stature, Camptodactyly of finger, Failure to thri...	ORPHA:354
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In...	ORPHA:99889
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Oromandibular Dystonia	Torticollis, Weight loss	ORPHA:93958
Retinitis Pigmentosa	Hyperinsulinemia, Abnormal testis morphology, Obesity, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, T lymphocytopenia, Decreased proportion of CD4-positive h...	OMIM:619510
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Fatigable weakness of respiratory muscles, Hepat...	ORPHA:365
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Anemia, Unilateral renal agenesis, Ectopic kidney, Trun...	OMIM:616541
Doors Syndrome	Toenail dysplasia, Absent fingernail, Congenital hypothyroidism, Adrenal hyperplasia, Abnormal fi...	ORPHA:79500
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Rhabdoid Tumor	Internal hemorrhage, Hypertension, Weight loss	ORPHA:69077
Solitary Fibrous Tumor	Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglyce...	ORPHA:2126
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Ureterocele, Sparse axillary hair, Urethral stenosis, Decreased response to growt...	OMIM:604292
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Jo...	OMIM:617301
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Proportionate short stature, Weight loss, Arrhythmia, Failure to thrive in inf...	ORPHA:171876
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:168558
Multiple Mitochondrial Dysfunctions Syndrome 7	Exaggerated startle response, Partial atrioventricular canal defect, Hypernatremia, Dystonia, Hyp...	OMIM:620423
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Mucolipidosis Type Ii	Postnatal growth retardation, Pulmonary insufficiency, Aortic regurgitation, Abnormal atrioventri...	ORPHA:576
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Exaggerated startle response, Dysplastic testes, Cryptor...	OMIM:608800
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:289548
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Left atrial enlargement, Cirrhosis...	ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 58	Ragged-red muscle fibers, Hyperalaninemia, Exaggerated startle response, Hypoglycemia, Hyperproli...	OMIM:620451
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98754
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Delayed puberty, Osteopenia, Abnormality of the endocrine system, Pr...	ORPHA:391487
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Limb hypertonia, Athetosis, Blepharospasm, Limb dystonia, Exagger...	OMIM:608643
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Meige Disease	Atypical scarring of skin, Absence of lymph node germinal center, Cellulitis, Lymph node hypoplasia	ORPHA:90186
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Elevated circula...	OMIM:263700
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Umbili...	OMIM:301068
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Decreased circulating copper co...	OMIM:300972
Al Amyloidosis	Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Jaw claudication, Abnormal P wave, Weig...	ORPHA:85443
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Myocardial eosinophilic infiltration, Splenomegaly, Cholangitis, Myelofibrosis, ...	ORPHA:3260
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, Uterus didelphys, Ne...	OMIM:146255
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98793
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Cryptorchidism, Short nail, Hydronephrosi...	OMIM:312870
Graves Disease	Congestive heart failure, Weight loss	OMIM:275000
Follicular Lymphoma	Weight loss	ORPHA:545
Aicardi-Goutieres Syndrome 9	Increased blood pressure, Hypertension, Portal hypertension, Failure to thrive, Lower limb hypert...	OMIM:619487
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177904
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abnormalities, Limb muscle...	ORPHA:1900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177901
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Hypophosphatemi...	OMIM:219800
Fusariosis	Lung abscess, Panniculitis, Myositis, Arthritis, Brain abscess, Granuloma, Abnormality of the spl...	ORPHA:228119
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Splenomegaly, Hypocholesterolemia, Hepatic steatosis, Hypospadias, Fai...	OMIM:270400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormality of the endocrine system, Pulmonic stenosis, Abnormal heart morphology, Decreased circ...	ORPHA:438213
Chronic Visceral Acid Sphingomyelinase Deficiency	Delayed puberty, Osteopenia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Abnormal circulating ...	ORPHA:77293
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly	OMIM:105210
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf...	ORPHA:3214
Gerstmann-Straussler Disease	Weight loss, Lower limb muscle weakness	OMIM:137440
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Umbilical hernia, ...	OMIM:617237
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Primary hypothyroidism...	ORPHA:64
Isolated Biliary Atresia	Xanthelasma, Cirrhosis, Severe failure to thrive, Jaundice, Hepatomegaly, Periportal fibrosis, Ch...	ORPHA:30391
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Tetraamelia Syndrome 1	Adrenal gland agenesis, Renal agenesis, Urethral atresia	OMIM:273395
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Arthrogryposis multiplex congenita, Cryptorchidism, Umbilical hern...	OMIM:618143
Mitochondrial Complex I Deficiency, Nuclear Type 1	Poor head control, Ragged-red muscle fibers, Growth delay, Failure to thrive, Increased intramyoc...	OMIM:252010
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair	ORPHA:53271
Plaa-Associated Neurodevelopmental Disorder	Limb hypertonia, Hyperextensibility of the finger joints, Exaggerated startle response, Failure t...	ORPHA:521426
Beck-Fahrner Syndrome	Cardiomegaly, Joint hypermobility, Ventricular septal defect, Facial hypotonia	OMIM:618798
Disabling Pansclerotic Morphea Of Childhood	Joint contracture, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia	OMIM:620443
Primary Sclerosing Cholangitis	Cholestasis, Ascites, Splenomegaly, Type I diabetes mellitus, Jaundice, Thyroiditis, Hepatocellul...	ORPHA:171
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hypomimic face, Exaggerated startle response, Congenital hypothyroidism, Failure to thrive, Contr...	OMIM:617527
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator...	ORPHA:186
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, W...	ORPHA:100080
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo...	OMIM:614083
Alkaptonuria	Prostatitis, Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral v...	ORPHA:56
Pmm2-Cdg	Reduced thyroxin-binding globulin, Pericarditis, Multiple renal cysts, Joint hypermobility, Impai...	ORPHA:79318
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ...	ORPHA:79277
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Atrioventricular canal defect, Vesicoureteral reflux, Aplasia of th...	OMIM:274000
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Gastrointestinal hemorrhage, Hypertension, Weight loss, Myopathy	ORPHA:85450
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Juvenile rheumatoid arthritis, Tubulointerstitial fibrosis, T lymphocytopenia, H...	OMIM:607944
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
Vici Syndrome	Atrial septal defect, Lymphopenia, Elevated circulating creatine kinase concentration, Cardiomyop...	OMIM:242840
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Chylous ascites, Secondary hyperaldost...	ORPHA:90363
Pfapa Syndrome	Weight loss	ORPHA:42642
Hyperekplexia 3	Hiatus hernia, Exaggerated startle response	OMIM:614618
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen...	OMIM:233710
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Elevated circulating cr...	OMIM:610717
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus,...	OMIM:620365
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hydronephrosis, Hypospadias	OMIM:236680
Cantú Syndrome	Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Umbilical hernia, Car...	ORPHA:1517
Hyper-Igd Syndrome	Lymphadenopathy, Arthritis, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Spleno...	OMIM:260920
Asparagine Synthetase Deficiency	Hypoasparaginemia, Limb hypertonia, Tremor, Exaggerated startle response, Failure to thrive, Diap...	OMIM:615574
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen...	OMIM:233690
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100082
Hyperekplexia 2	Hiatus hernia, Exaggerated startle response	OMIM:614619
Telangiectasia, Hereditary Hemorrhagic, Type 2	Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia	OMIM:600376
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Cervical lymphadenopathy, Jaundice, Hepatomega...	OMIM:619573
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating procal...	ORPHA:36238
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Hypertrophic ...	ORPHA:308552
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Anemia, Accessory spleen, Patent foramen ovale, Portal hypertension, Hypoth...	OMIM:620005
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Anemia, Reduced haptoglobin level, Schistocytosis, Moderate proteinuri...	OMIM:301110
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Joint stiffness, Pulmonic stenosis...	ORPHA:904
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Limb hypertonia, Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Tenorio Syndrome	Osteopenia, Hypoinsulinemia, Enuresis, Joint hypermobility, Hypoglycemia, Macroglossia	OMIM:616260
Melas	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Progressive external ophthalmop...	ORPHA:550
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Weight loss	ORPHA:103910
Hyperekplexia 1	Inguinal hernia, Exaggerated startle response, Umbilical hernia	OMIM:149400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Cachexia, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Gro...	ORPHA:2072
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Small pituitary gland, Hypopigmentation of hair, Hypopigmentation of the skin...	ORPHA:398069
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Limb hypertonia, Splenic cyst, Tracheomalacia, Patent foramen ovale, Decreased body...	OMIM:620371
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
X-Linked Agammaglobulinemia	Short stature, Failure to thrive, Weight loss	ORPHA:47
Systemic Capillary Leak Syndrome	Myocarditis, Hypotension, Pericarditis, Weight loss, Arrhythmia	ORPHA:188
Sweet Syndrome	Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia, Sterile abscess, Elevat...	ORPHA:3243
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Leuk...	ORPHA:32960
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss	OMIM:613239
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone ma...	ORPHA:508542
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th...	ORPHA:2330
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Short stature, Failure to thrive, Weight loss, Typ...	OMIM:212750
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene...	ORPHA:3322
Bronchial Neuroendocrine Tumor	Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, Cardiogen...	ORPHA:97287
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep...	OMIM:617913
Meckel Syndrome 14	Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single...	OMIM:619879
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Leukocytosis, Hyp...	ORPHA:247353
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Inguinal hernia, Acute lymphoblastic leukemia, Hypocholesterolemia,...	OMIM:223370
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Granuloma, ...	OMIM:306400
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Patent foramen ovale, Vesicoureteral reflux, Corneal scarring, Rena...	OMIM:618460
Mitochondrial Dna-Associated Leigh Syndrome	Ragged-red muscle fibers, Failure to thrive, Ophthalmoparesis, Muscle weakness	ORPHA:255210
Cystic Echinococcosis	Abnormality of the diaphragm, Weight loss	ORPHA:400
Short Syndrome	Insulin resistance, Diabetes mellitus, Severe short stature, Weight loss	ORPHA:3163
Alveolar Echinococcosis	Abnormality of the diaphragm, Abnormal skeletal muscle morphology, Budd-Chiari syndrome, Portal h...	ORPHA:284
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val...	ORPHA:2729
Nephroblastoma	Hypertension, Weight loss	ORPHA:654
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Ascites, Camptodactyly of finger, Pericardial effu...	ORPHA:2136
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia	OMIM:187300
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Atrial septal defect, Patent foramen ovale, Tremor, Left ventricular noncompacti...	OMIM:300967
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Holocarboxylase Synthetase Deficiency	Growth delay, Weight loss	ORPHA:79242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture	OMIM:613154
Bohring-Opitz Syndrome	Annular pancreas, Severe failure to thrive, Fixed elbow flexion, Cholelithiasis, Facial hypotonia...	ORPHA:97297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response, Facial hypotonia	ORPHA:438216
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Weight loss, Lower limb muscle weakness	ORPHA:370348
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Hypocalcemia,...	ORPHA:667
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Hereditary Late-Onset Parkinson Disease	Hypomimic face, Weight loss, Orthostatic hypotension due to autonomic dysfunction	ORPHA:411602
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hepatomegaly, Hypopigmentation of hair, He...	ORPHA:163746
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ureteral stenosis, Iris hypopigmentation, Cryptorchidism, Abnormality o...	ORPHA:2719
Familial Glucocorticoid Deficiency	Hypoglycemic seizures, Ketotic hypoglycemia, Hypotension, Hypertrophic cardiomyopathy, Failure to...	ORPHA:361
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Abno...	ORPHA:99826
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:276621
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ...	ORPHA:322
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Hypocholesterolemia, Ventricular septal defect, Atrial septal defect	OMIM:244450
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, Limb muscle weak...	OMIM:619259
Thymic Carcinoma	Weight loss	ORPHA:99868
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ...	OMIM:127550
Chronic Beryllium Disease	Weight loss	ORPHA:133
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnorma...	OMIM:620306
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me...	ORPHA:79430
Osteosarcoma	Weight loss	ORPHA:668
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Aggressive Systemic Mastocytosis	Portal hypertension, Gastrointestinal hemorrhage, Hypotension, Weight loss	ORPHA:98850
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Failure to thri...	ORPHA:1329
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Secondary Short Bowel Syndrome	Growth delay, Failure to thrive, Weight loss	ORPHA:95427
Adrenocortical Carcinoma	Increased body weight, Hypertension, Weight loss, Palpitations, Diabetes mellitus	ORPHA:1501
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Flexion contracture, Weight loss	ORPHA:440437
Liposarcoma	Weight loss	ORPHA:69078
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ...	OMIM:614527
Hepatoerythropoietic Porphyria	Osteopenia, Scarring, Red urine, Scarring alopecia of scalp, Purple urine, Red-brown urine, Osteo...	ORPHA:95159
Beta-Ketothiolase Deficiency	Hypertension, Hypotension, Hyperglycemia, Weight loss, Hypoglycemia	ORPHA:134
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Flexion contracture, Weight loss	ORPHA:85408
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricul...	ORPHA:100075
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Failure to thrive in infanc...	ORPHA:1572
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Hyperostosis, Abnormal eosinophil morphology, Arthritis, Hypoplasia of th...	ORPHA:906
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Macroglossia, Ventricular septal defect, Precocious puberty, Umbilical hernia, Card...	ORPHA:96191
Yao Syndrome	Pericarditis, Weight loss	OMIM:617321
Psoriasis 14, Pustular	Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, O...	OMIM:614204
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Degcags Syndrome	Premature graying of hair, Hypopigmentation of the skin, Low posterior hairline, Abnormal eyebrow...	OMIM:619488
Kaposi Sarcoma	Weight loss	ORPHA:33276
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Diffuse Alveolar Hemorrhage	Pulmonary venous hypertension, Weight loss	ORPHA:90060
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly, Ankylosis, Dilated cardiomyopathy	OMIM:208000
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Rat-Bite Fever	Myocarditis, Pericarditis, Tendonitis, Weight loss	ORPHA:31205
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Weight loss, Bradycardia	ORPHA:221098
Eosinophilic Gastroenteritis	Hematochezia, Weight loss	ORPHA:2070
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Hypertension, Weight loss	OMIM:256700
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Giant Cell Arteritis	Vasculitis, Cerebral ischemia, Pericarditis, Epistaxis, Weight loss, Arrhythmia, Sudden cardiac d...	ORPHA:397
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary...	OMIM:619534
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Hypotension, Hypoglycemia, Failure to thrive, Weight loss, Type I diabet...	ORPHA:199299
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in...	ORPHA:90794
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Reynolds Syndrome	Steatorrhea, Jaundice, Hepatomegaly, Calcinosis, Hyperbilirubinemia, Cholestasis, Biliary cirrhos...	OMIM:613471
Prader-Willi Syndrome Due To Translocation	Abnormality of the kidney, Decreased response to growth hormone stimulation test, Hypopigmentatio...	ORPHA:177907
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Ménétrier Disease	Gastrointestinal hemorrhage, Weight loss	ORPHA:2494
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Renal hypoplasia, Mic...	OMIM:619321
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Hypotension, Nonketotic hypoglycemia, Weight loss, Recurrent hypoglycemia, Dilate...	ORPHA:20
Acute Adrenal Insufficiency	Delayed puberty, Orthostatic hypotension, Hypotension, Hypovolemia, Failure to thrive, Weight los...	ORPHA:95409
Aicardi-Goutieres Syndrome 7	Hematemesis, Limb hypertonia, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Hematochezia...	OMIM:615846
Whim Syndrome	Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymphopenia, Cellu...	ORPHA:51636
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Crimean-Congo Hemorrhagic Fever	Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cholecystitis, A...	ORPHA:99827
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Camptodactyly of toe, Cardiomyopathy	ORPHA:158687
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:29072
Simple Cryoglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Hypertension, Pericarditis, Ra...	ORPHA:91139
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Primary Hepatic Neuroendocrine Carcinoma	Facial telangiectasia, Right ventricular failure, Weight loss, Heart murmur, Palpitations	ORPHA:100085
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Vasculitis, Weight loss	ORPHA:324964
Malignant Atrophic Papulosis	Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Telangiectasia of the skin, Weight loss,...	ORPHA:679
Norrie Disease	Delayed puberty, Cachexia, Diabetes mellitus, Failure to thrive	ORPHA:649
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Failure to thrive, Rhabdomyolysis, Muscle weakness	OMIM:124000
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Failure to thrive, Cardiomegaly, Hypoglycemia, Ventricular septal defec...	ORPHA:137675
Familial Thrombocytosis	Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Weight loss, Syncope	ORPHA:71493
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Dermatomyositis	Myocarditis, Inflammatory myopathy, Myositis, Vasculitis, Sinus tachycardia, EMG: myopathic abnor...	ORPHA:221
Budd-Chiari Syndrome	Portal hypertension, Gastrointestinal hemorrhage, Weight loss	ORPHA:131
Ileal Neuroendocrine Tumor	Hypotension, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Cardiogenic shock,...	ORPHA:100078
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Cardiac arrest, Weight loss	ORPHA:139402
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Behçet Disease	Gastrointestinal hemorrhage, Aortic regurgitation, Myositis, Vasculitis, Cerebral ischemia, Peric...	ORPHA:117
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Epistaxis, Weight loss	ORPHA:520
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
Perry Syndrome	Weight loss	OMIM:168605
Congenital Tracheomalacia	Tracheomalacia, Tracheobronchomalacia, Failure to thrive, Abnormal heart morphology, Tetralogy of...	ORPHA:95430
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Weight loss, Short stature	OMIM:301310
Acrodermatitis Enteropathica	Short stature, Failure to thrive, Weight loss	ORPHA:37
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Anemia, Inguinal hernia, Lymphopenia, Abnormality of the pancreas	ORPHA:935
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Hypoperistalsis, Achalasia, Weight loss	ORPHA:1018
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Fatal Familial Insomnia	Weight loss	OMIM:600072
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Ventricular septal defe...	ORPHA:3427
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Generalized Arterial Calcification Of Infancy	Myocardial calcification, Hypophosphatemic rickets, Fused cervical vertebrae, Osteomalacia, Abnor...	ORPHA:51608
Amoebiasis Due To Entamoeba Histolytica	Congestive heart failure, Constrictive pericarditis, Weight loss	ORPHA:67
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Hypospadias, Hypopigmentation of hair, Hypoplasia of penis, Abnormal ey...	ORPHA:818
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Chédiak-Higashi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr...	ORPHA:167
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:97286
Choreoacanthocytosis	Distal amyotrophy, Muscle fiber atrophy, Peroneal muscle atrophy, Weight loss, Dilated cardiomyop...	ORPHA:2388
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, Inguinal hernia, Abnormality of connective tissue	ORPHA:91387
Yunis-Varon Syndrome	Severe failure to thrive, Hypospadias, Absent sternal ossification, Renal artery stenosis, Decrea...	ORPHA:3472
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Refractory Celiac Disease	Weight loss	ORPHA:398063
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Maternal diabetes, Weight loss	ORPHA:103918
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Ventricular septal defect, Grade III vesicouret...	OMIM:619522
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Weight loss, Tachycardia	ORPHA:71273
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak	ORPHA:1974
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Weight loss, Intraventricular hemorrhage, Telangiectasia	ORPHA:420741
Addison Disease	Delayed puberty, Orthostatic hypotension, Hypotension, Hypoglycemia, Failure to thrive, Weight lo...	ORPHA:85138
Menkes Disease	Woolly hair, Hypopigmentation of hair, Bladder diverticulum, Sparse hair	ORPHA:565
Pemphigus Vulgaris	Weight loss	ORPHA:704
Neuroblastoma	Hypertension, Weight loss	ORPHA:635
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Patent foramen ovale, Truncus arteriosus, Abnormal heart morph...	ORPHA:980
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Biliary...	OMIM:194190
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Singleton-Merten Syndrome 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Decreased body weight, Osteoporosis,...	OMIM:182250
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Granulomatosis With Polyangiitis	Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Weight loss	OMIM:608710
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Hypertension, Cerebral ischemia, Perica...	ORPHA:900
Stevens-Johnson Syndrome	Myocardial infarction, Gastrointestinal hemorrhage, Sudden cardiac death, Weight loss	ORPHA:36426
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Klatskin Tumor	Weight loss	ORPHA:99978
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Hutchinson-Gilford Progeria Syndrome	Left ventricular systolic dysfunction, Severe failure to thrive, Aortic regurgitation, Angina pec...	ORPHA:740
Lynch Syndrome	Gastrointestinal hemorrhage, Flexion contracture, Weight loss	ORPHA:144
Castleman Disease	Restrictive cardiomyopathy, Weight loss	ORPHA:160
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Cryptorchi...	OMIM:135900
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension...	ORPHA:91347
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Weight loss, Abnormality of the extraocular muscles	ORPHA:79078
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sudden cardiac death, Weight loss	ORPHA:537
Familial Pancreatic Carcinoma	Diabetes mellitus, Weight loss	ORPHA:1333
Postinfectious Vasculitis	Ischemic stroke, Hypertension, Cardiomyopathy, Vasculitis in the skin, Raynaud phenomenon, Weight...	ORPHA:48435
Erdheim-Chester Disease	Congestive heart failure, Weight loss	ORPHA:35687
Yellow Fever	Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Leukocytosis, Elev...	ORPHA:99829
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Weight loss	ORPHA:309031
Fanconi Anemia	Hypertrophic cardiomyopathy, Growth delay, Short stature, Weight loss, Intrauterine growth retard...	ORPHA:84
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Zollinger-Ellison Syndrome	Increased glucagon level, Hematochezia, Weight loss, Gastrointestinal hemorrhage	ORPHA:913
Reactive Arthritis	Pericarditis, Aortic regurgitation, Weight loss	ORPHA:29207
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Weight loss	ORPHA:97283
Primary Fanconi Renotubular Syndrome	Growth delay, Glycosuria, Hypoglycemia, Weight loss	ORPHA:3337
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Weight loss	ORPHA:97280
Pancreatoblastoma	Weight loss	ORPHA:677
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Increased pulmonary vascular resistance, Weight loss	ORPHA:60025
Sarcoidosis	Heart block, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Weight los...	ORPHA:797
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect, Bifid uteru...	OMIM:256520
Ppoma	Gastrointestinal hemorrhage, Weight loss	ORPHA:97278
Vipoma	Diabetes mellitus, Weight loss	ORPHA:97282
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Parathyroid Carcinoma	Shortened QT interval, Weight loss	ORPHA:143
Chronic Graft Versus Host Disease	Flexion contracture, Weight loss	ORPHA:99921
Grfoma	Gastrointestinal hemorrhage, Weight loss	ORPHA:97261
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Hypokalemia, Abnormal heart valve morphology, Renovascular hyperten...	ORPHA:286
Malt Lymphoma	Weight loss	ORPHA:52417
Multiple Endocrine Neoplasia Type 1	Hematemesis, Melena, Hypertension, Shortened QT interval, Weight loss	ORPHA:652
Systemic Lupus Erythematosus	Hypertension, Raynaud phenomenon, Weight loss	ORPHA:536
African Trypanosomiasis	Myocarditis, Congestive heart failure, Pericarditis, Weight loss, Arrhythmia, Third degree atriov...	ORPHA:3385
Nocardiosis	Pericarditis, Weight loss	ORPHA:31204
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Hypertrophic ...	OMIM:601803
Sarcoidosis, Susceptibility To, 1	Pulmonary arterial hypertension, Weight loss	OMIM:181000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030

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	Life Stage
Ear - MPATH pathological process term chronic inflammation	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Tongue - MPATH pathological process term atrophy	Lmod3^em1(IMPC)Mbp	HET	Late adult
Heart - MPATH pathological process term hypoplasia	Lmod3^em1(IMPC)Mbp	HET	Late adult
Skeletal muscle - MPATH pathological process term hypoplasia	Lmod3^em1(IMPC)Mbp	HET	Late adult
Nasal cavity - MPATH pathological process term chronic inflammation	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Tongue - MPATH pathological process term hypoplasia	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Kidney - MPATH pathological process term chronic inflammation	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Skeletal muscle - MPATH pathological process term hypoplasia	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Heart - MPATH pathological process term atrophy	Lmod3^em1(IMPC)Mbp	HET	Late adult
Skeletal muscle - MPATH pathological process term atrophy	Lmod3^em1(IMPC)Mbp	HET	Late adult
Tongue - MPATH pathological process term atrophy	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Prostate gland - MPATH pathological process term chronic inflammation	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Skeletal muscle - MPATH pathological process term atrophy	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Urinary bladder - MPATH pathological process term chronic inflammation	Lmod3^em1(IMPC)Mbp	HOM	Early adult
Tongue - MPATH pathological process term hypoplasia	Lmod3^em1(IMPC)Mbp	HET	Late 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 Lmod3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Control of PD-L1 Expression by Oncogenic Activation of the AKT-mTOR Pathway in Non-Small Cell Lung Cancer.	Cancer research (December 2015)	Lmod3^em1(IMPC)Mbp	26637667

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Lmod3^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue
Lmod3^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lmod3^{tm114678(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Lmod3 MGI:2444169

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

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X-ray

X-ray

X-ray

Histopathology

Human diseases caused by Lmod3 mutations

Histopathology

IMPC related publications

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