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Gene: Bloc1s6 MGI:1927580

Gene Summary

Name:

biogenesis of lysosomal organelles complex-1, subunit 6, pallidin

Synonyms:

BLOC-1, BLOC-1 subunit, Pldn

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal coat/hair pigmentation	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	2.87×10^-15
enlarged spleen	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
hyperactivity	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	5.19×10^-05
increased circulating serum albumin level	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	1.47×10^-05
abnormal spleen morphology	Bloc1s6^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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Histopathology

Images

14 Images

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Human diseases caused by Bloc1s6 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 Bloc1s6 (1 diseases)
Human diseases predicted to be associated with Bloc1s6 (1379 diseases)

The table below shows human diseases associated to Bloc1s6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 9		Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmen...	OMIM:614171

The table below shows human diseases predicted to be associated to Bloc1s6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Hypopigmentation of the skin, Epistaxis, Albinism, Im...	OMIM:614075
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Periodontitis, Neutropenia, Prolonged bleeding time, De...	OMIM:608233
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Hypoplasia of the fovea, Absent platelet dense granules, Epistaxis, Albinism, ...	OMIM:614073
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc...	OMIM:273800
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Glomerulopathy, Ataxia, Pericardial effusion, Hemipleg...	ORPHA:36412
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed a...	OMIM:203300
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormali...	ORPHA:2585
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental extraction, Albinism, Ocular ...	OMIM:614076
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platele...	OMIM:619172
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi...	OMIM:614074
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Abnormality of...	OMIM:155100
Chediak-Higashi Syndrome	Tremor, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation of th...	OMIM:214500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic...	ORPHA:634
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Failure to thrive in infancy, Ataxia, Proteinuria, Splenomegaly...	ORPHA:834
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract i...	OMIM:613101
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o...	OMIM:614072
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmen...	OMIM:614171
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Idiopathic Bronchiectasis	Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Respiratory tract infection, Abnormal re...	ORPHA:60033
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip...	OMIM:614077
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Renal insufficiency, Pa...	ORPHA:79430
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Asthma, Bronchiectasis, Respirato...	ORPHA:1164
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Alopeci...	OMIM:615559
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon...	OMIM:300400
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Apnea, Bilateral tonic-clonic seizure, Albinism, Splenomegaly, ...	OMIM:617050
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Apnea, Edema, Polyhydramnios, Decrease...	ORPHA:79330
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
3-Methylglutaconic Aciduria Type 4	Cataract, Hearing impairment, Seizure, 3-Methylglutaconic aciduria, Spasticity, Failure to thrive...	ORPHA:67048
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Immunodeficiency 20	Recurrent respiratory infections, Reduced natural killer cell activity, Wheezing, Recurrent sinus...	OMIM:615707
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Cataract, Ataxia, Abnormality of neutrophils, Hearing impairmen...	ORPHA:2720
Slc35A1-Cdg	Respiratory distress, Prolonged bleeding time, Abnormal bleeding, Subcutaneous hemorrhage, Pneumo...	ORPHA:238459
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema,...	ORPHA:3226
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin...	ORPHA:79127
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Sensorineural hearing impairment, Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Imp...	OMIM:124900
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Incoordination, Epistaxis, Ocular albinism, Hypertonia, Abnorma...	ORPHA:352723
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Incr...	ORPHA:182050
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist...	OMIM:231200
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy...	OMIM:613953
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch...	OMIM:613490
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Ethanolaminosis	Cardiomegaly	OMIM:227150
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Hellp Syndrome	Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Protein...	ORPHA:244242
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Vici Syndrome	Albinism, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Hypopigmen...	OMIM:242840
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Systemic Capillary Leak Syndrome	Pericarditis, Pulmonary edema, Renal insufficiency, Abnormal renal tubule morphology, Myocarditis...	ORPHA:188
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst...	OMIM:612387
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Proteinuria, Subcutaneous hemorrhage, Macrothrombocytopenia, Seizure, Aminoaciduria, Neut...	OMIM:603585
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ureteral stenosis, Ataxia, Corneal opacity, Cataract, Cryptorchidism, S...	ORPHA:2719
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio...	ORPHA:231393
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Urinary incontinence, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnor...	OMIM:105210
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Hypophosphatasia	Failure to thrive in infancy, Respiratory insufficiency, Seizure, Emphysema, Anemia	ORPHA:436
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm...	OMIM:267450
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash morphology, Spl...	ORPHA:381
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Chédiak-Higashi Syndrome	Edema, Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymph...	ORPHA:167
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B...	OMIM:242700
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Microcytic anemi...	ORPHA:90308
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem...	OMIM:187800
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Pneumothorax, Renal cell carcinoma, Pulmonary sequestration,...	ORPHA:122
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Ectopia lentis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chr...	OMIM:604571
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Imp...	OMIM:617443
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
High Altitude Pulmonary Edema	Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Vertigo, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Nephropathy, Prolonged bleeding time, Hemolytic anemia, Alopeci...	ORPHA:809
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na...	OMIM:308240
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Pedal edema, Weight...	ORPHA:330001
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he...	OMIM:277480
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto...	ORPHA:1572
Mgat2-Cdg	Respiratory distress, Decreased circulating IgG level, Impaired lymphocyte transformation with ph...	ORPHA:79329
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy, ...	OMIM:620365
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Kerion Celsi	Alopecia, Lymphadenopathy	ORPHA:499
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Increased circulating IgA level, Asthma, Increased circulating IgE level, Pleura...	OMIM:619632
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Cachexia, Tremor, Respiratory insufficiency, Seizure, Progressive hear...	ORPHA:97229
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo...	ORPHA:340
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Japanese Encephalitis	Respiratory distress, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, I...	ORPHA:79139
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly...	OMIM:209950
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre...	OMIM:618913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Recurrent aspiration pneumonia, Waddling gait, Bilateral tonic-clonic seizure with genera...	ORPHA:2590
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splen...	OMIM:616050
Alpha-1-Antitrypsin Deficiency	Nephrotic syndrome, Emphysema, Hepatitis	ORPHA:60
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility...	OMIM:614009
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the...	ORPHA:251282
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su...	OMIM:601399
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Neuroectodermal Melanolysosomal Disease	Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia...	ORPHA:33445
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Bernard-Soulier Syndrome	Partially duplicated kidney, Spontaneous, recurrent epistaxis, Abnormal bleeding, Gastrointestina...	ORPHA:274
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Obes...	OMIM:615993
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Synophrys, Asymmetr...	OMIM:252920
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Lymphangioleiomyomatosis	Abnormal urinary color, Lymphedema, Abnormality of skin pigmentation, Cough, Ungual fibroma, Emph...	ORPHA:538
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Cocaine Intoxication	Respiratory distress, Tremor, Tachypnea, Tubulointerstitial nephritis, Colitis, Cough, Hyperventi...	ORPHA:90068
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Sarcoidosis, Susceptibility To, 1	Uveitis, Inflammation of the large intestine, Cough, Emphysema, Pericardial effusion, Bronchiecta...	OMIM:181000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Seizure, Hypopigmentation of the ski...	ORPHA:411515
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Ataxia, Skin rash, Edema, Reduced natural killer cell activity, Splenomegaly, Tetra...	OMIM:603553
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Griscelli Syndrome Type 1	Ataxia, Partial albinism, White hair, Premature graying of hair, Seizure, Hypertonia, Retinopathy...	ORPHA:79476
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Abno...	ORPHA:382
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Usher Syndrome Type 3	Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Ves...	ORPHA:231183
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Ethylene Glycol Poisoning	Renal insufficiency, Ataxia, Gastritis, Tachypnea, Episodic respiratory distress, Slurred speech,...	ORPHA:31826
Hemochromatosis, Type 2B	Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef...	ORPHA:542323
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Interstitial emphysema, Bronchiectasis, Dysmetria, Dilatation of the ren...	OMIM:619708
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Usher Syndrome Type 1	Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypof...	ORPHA:231169
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Immunodeficiency 104	Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Failure to...	OMIM:608971
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem...	OMIM:269840
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo...	ORPHA:70578
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Seizure, Emphysema	OMIM:210050
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenom...	OMIM:153670
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ...	ORPHA:2968
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Petechiae, Reduced natural killer cell activity, Thrombocytop...	ORPHA:540
Microlissencephaly	Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Pneumonia	ORPHA:1083
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat...	ORPHA:507
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, H...	ORPHA:79477
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,...	ORPHA:90117
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Sensorineural hearing impairment, Failure to thrive, Optic disc hypoplasia, Aspiration pneumonia	OMIM:609528
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Ataxia-Telangiectasia	Recurrent respiratory infections, Abnormality of chromosome stability, Lymphopenia, Ataxia, Hypop...	ORPHA:100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Fabry Disease	Conjunctival telangiectasia, Corneal dystrophy, Lymphedema, Nephropathy, Emphysema, Glomerulopath...	ORPHA:324
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R...	ORPHA:240103
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Aspergillosis	Sinusitis, Vitritis, Intracranial hemorrhage, Neutropenia, Cough, Infectious encephalitis, Abnorm...	ORPHA:1163
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Impaired T cell function,...	OMIM:613179
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Widow's peak, Periodontitis, Recurrent otitis media, Reduction of neutro...	OMIM:266265
Sarcoidosis	Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Neph...	ORPHA:797
Huntington Disease-Like 1	Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria...	ORPHA:157941
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen...	OMIM:607594
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanoc...	ORPHA:54
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Infantile Sialic Acid Storage Disease	Hepatomegaly, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated ly...	OMIM:269920
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Dyspnea, Hemothorax, Pulmonar...	ORPHA:199241
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Thick hair, Subretinal pigment epithelium hemorrhage, Spasticity, Seizure, Coarse hair, Low-set e...	ORPHA:357074
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
De Barsy Syndrome	Recurrent sinopulmonary infections, Cataract, Corneal opacity, Cryptorchidism, Athetosis, Progres...	ORPHA:2962
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia	ORPHA:930
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Ataxia, Hemifacial spasm, Purpura, Edema, Tremor, Myocarditis, Myd...	ORPHA:466677
Tularemia	Respiratory distress, Skin rash, Pneumonia, Conjunctival hyperemia, Erythema nodosum, Leukocytosi...	ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Rigidity, Optic atrophy, Respiratory fa...	OMIM:619057
Ciliary Dyskinesia, Primary, 33	Atelectasis, Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis...	OMIM:616726
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa...	OMIM:601457
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Prolonged bleeding time, Cryptorchidism, Abnormal helix morpho...	ORPHA:638
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat...	ORPHA:397596
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Otitis media, Rod-cone dystrophy, Chronic sinusitis, Recurrent bronchitis, High-freq...	OMIM:300455
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg...	OMIM:617514
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Anorexia, Oral-ph...	ORPHA:100083
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Epileptic spasm, Ataxia, Polyhydramnios, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclon...	OMIM:619971
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Increased circulating IgE level, Wheezing, Asthma, Atelec...	ORPHA:2902
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Ogden Syndrome	Generalized-onset seizure, Apnea, Lymphedema, Protruding ear, Iron deficiency anemia, Hypertonia,...	OMIM:300855
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Ellis Van Creveld Syndrome	Abnormal hair quantity, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal fingernail ...	ORPHA:289
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Small for gestational age, Polyuria, Polyhydramnios, Renal salt wasting, Increa...	OMIM:241200
Nocardiosis	Respiratory distress, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysema, Infectious e...	ORPHA:31204
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Crackles, Tachypnea, Elevated circulating thyroid-stimulating hormone conce...	OMIM:610978
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Splenomegaly, Giant platelets, Anemia, Arthritis, Corneal arc...	OMIM:210250
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit...	OMIM:617638
Meier-Gorlin Syndrome 4	Cryptorchidism, Microtia, Low-set ears, Emphysema, Failure to thrive, Breast hypoplasia	OMIM:613804
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent upper respiratory trac...	OMIM:300209
Immunodeficiency 32B	Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly,...	OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine...	OMIM:620010
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Dyspnea, Pulmonary venous hypertension, Peripheral e...	ORPHA:75249
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb...	ORPHA:158061
Loeys-Dietz Syndrome 4	Torticollis, Flat cornea, Eosinophilic infiltration of the esophagus, Pneumothorax, Emphysema, Br...	OMIM:614816
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp...	ORPHA:858
Rigid Spine Syndrome	Waddling gait, Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology	DECIPHER:39
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Recurrent respiratory infections, Corneal opacity, Large for gestational age, Respiratory insuffi...	ORPHA:2432
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Hypopigmented skin patches, Lymphadenopathy, Irregular hype...	ORPHA:2584
Macs Syndrome	Prolonged bleeding time, Alopecia, Palpebral edema, Sparse eyebrow, Cryptorchidism, Urethral sten...	OMIM:613075
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hearing abnormality, Cupped ear, Ocular albinism, Microtia, Myoclonus	ORPHA:1352
Riddle Syndrome	Conjunctival telangiectasia, Bronchitis, Enuresis nocturna, Otitis media, Poor hand-eye coordinat...	ORPHA:420741
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R...	OMIM:620321
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit...	ORPHA:51636
Sea-Blue Histiocyte Disease	Splenomegaly, Cirrhosis, Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia	OMIM:269600
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration,...	OMIM:235200
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Abnormal bleeding, Cataract, Ataxia, Polyhydramnios, Tremor, Recurrent pneu...	OMIM:616271
Prader-Willi Syndrome	Hypoventilation, Recurrent respiratory infections, Hypopigmentation of hair, Failure to thrive in...	OMIM:176270
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Recurrent respiratory infections, Frontal balding, Early balding, Unsteady gait, Blue irides, Dys...	ORPHA:3041
Ovarian Hyperstimulation Syndrome	Generalized edema, Increased circulating gonadotropin level, Peripheral edema, Increased serum te...	ORPHA:64739
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Muscular Hypertonia, Lethal	Respiratory distress, Hypertonia, Pneumonia	OMIM:254120
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Seizure, Pneumonia	ORPHA:85179
Pseudohypoparathyroidism Type 1A	Cataract, Involuntary movements, Reduced circulating prolactin concentration, Band keratopathy, D...	ORPHA:79443
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Atelis Syndrome 1	Glue ear, Cataract, Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Thrombocy...	OMIM:620184
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:177910
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Conductive hearing impairment, Genera...	ORPHA:1606
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Apnea, Hypospadias, Optic atrophy, Bronchiectasis, Respiratory insuffi...	OMIM:618253
Benign Paroxysmal Torticollis Of Infancy	Vertigo, Abnormal head movements, Torticollis, Ataxia	ORPHA:71518
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi...	ORPHA:352731
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Seizure, Gait imbalance, Hypopigment...	ORPHA:411511
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic steatosis, Panc...	OMIM:618805
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Facial edema, Nonproductive cough, Fulminant hepatitis, Periorbit...	ORPHA:319213
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar...	ORPHA:79126
Jeavons Syndrome	Abnormal head movements, Bilateral tonic-clonic seizure with generalized onset, Focal seizure wit...	ORPHA:139431
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil...	ORPHA:723
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Ocular Albinism With Late-Onset Sensorineural Deafness	Sensorineural hearing impairment, Ocular albinism	ORPHA:1000
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased nasal nitric oxide,...	OMIM:612444
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Pericardial effusion, Abnormal renal tubular resorption, Hypercal...	ORPHA:73224
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Angelman Syndrome	Keratoconus, Optic disc pallor, Broad-based gait, Ataxia, Atonic seizure, Infantile spasms, Tremo...	ORPHA:72
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Tachypnea, Abnormal ...	OMIM:613658
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Wyburn-Mason Syndrome	Cerebral palsy, Epistaxis, Hearing impairment, Cerebral hemorrhage, Subarachnoid hemorrhage, Hemi...	ORPHA:53719
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Small for gestational ...	ORPHA:98754
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cataract, Apnea, Pericardial effusion, Seizure, Anasarca, Peripheral edema,...	OMIM:261740
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Skin rash, Microcytic anemia	ORPHA:1059
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Cirrhotic Cardiomyopathy	Abnormal bleeding, Conjunctival icterus, Elevated pulmonary artery pressure, Peripheral edema, As...	ORPHA:57777
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Obesity, Seizure, Myoclonus, Gait imb...	ORPHA:98794
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Retinal dystrophy, Inability to w...	OMIM:616756
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Blue i...	OMIM:261600
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Leukopenia, Aminoaciduria, Lymphocytosis, Cough, Hypospadias, Abnorm...	OMIM:619991
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset...	ORPHA:98795
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Noonan Syndrome	Abnormal hair quantity, Low-set, posteriorly rotated ears, Abnormal bleeding, Lymphedema, Aplasia...	ORPHA:648
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Huntington Disease-Like 3	Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence...	ORPHA:157946
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Small for gestational ...	ORPHA:98793
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Histiocytoid Cardiomyopathy	Corneal opacity, Tachypnea, Optic atrophy, Renal cyst, Seizure, Cough, Hemiplegia, Megalocornea, ...	ORPHA:137675
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Small for gestational age, Ataxia, Hypospadias, Highly arched eyebrow, Tremor, General...	OMIM:220111
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Small for gestational ...	ORPHA:177904
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Bladder diverticulum, Overgrowth, Emphysema, Oligohydramnios	OMIM:219100
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Small for gestational ...	ORPHA:177901
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency 61	Recurrent respiratory infections, Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, ...	OMIM:300310
Diarrhea 13	Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea, Involuntary movements	OMIM:616939
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Fanconi Anemia, Complementation Group F	Hyperpigmentation of the skin, Pneumonia, Polyhydramnios, Thrombocytopenia, Cryptorchidism, Condu...	OMIM:603467
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Partial absence of specific antibody response to Hae...	OMIM:301082
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Periorbital edema, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, ...	OMIM:613177
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Wolfram Syndrome 2	Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Sensorineural hearing impairment, Optic ...	OMIM:604928
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Asbestos Intoxication	Reduced vital capacity, Edema, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive ...	ORPHA:2302
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Synophrys, Recurrent upper respiratory tract infections, Macrotia, Increased body...	ORPHA:589905
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc...	OMIM:615387
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Rod-cone dystrophy, Weight loss, Opisthotonus, Pigmentary r...	ORPHA:216866
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec...	OMIM:620282
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Small for gestational age, Posteriorly rotated ears, Cryptorchi...	OMIM:616835
Citrullinemia Type Ii	Hypoproteinemia, Hepatomegaly, Hyperactivity, Restlessness, Decreased HDL cholesterol concentrati...	ORPHA:247585
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Hydrops fetalis, Macular degeneration, C...	ORPHA:333
Meier-Gorlin Syndrome 1	Respiratory distress, Small for gestational age, Hyperconvex nail, Cryptorchidism, Micropenis, Mi...	OMIM:224690
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Apnea, Episodic tachypnea, Parkinsonism, Poor motor coordination, Bilateral to...	ORPHA:79264
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Papillary renal cell carcinoma, Intr...	ORPHA:363618
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Hyperpigmentation of the skin, Anemia	ORPHA:75563
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Paraplegia, Hepatosplenomegaly, Urinary...	ORPHA:79124
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Spotty hyperpigmentation, Leukemia, Histiocytosis	ORPHA:157991
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Primary Ciliary Dyskinesia	Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal respiratory distress, Res...	ORPHA:244
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema	OMIM:115197
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Mixed hearing impairment, Ataxia, Pneumonia, Corneal opacity, Ca...	ORPHA:309288
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Tremor, Inability to walk, Sen...	ORPHA:52368
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis	OMIM:619013
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyelashes, Hyperalaninemia	OMIM:619064
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low po...	OMIM:617303
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 23	Increased circulating IgG level, Neutropenia, Conductive hearing impairment, Hemolytic anemia, Me...	OMIM:615816
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Episodic Ataxia Type 4	Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls	ORPHA:79136
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Concave nail, Tremor, Cryptorchidism, Blue irides, Spasticity, Fin...	OMIM:300978
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Oliver-Mcfarlane Syndrome	Central heterochromia, Hypoplasia of penis, Small for gestational age, Alopecia, Long eyebrows, C...	OMIM:275400
Bloom Syndrome	Bronchitis, Paronychia, Uveitis, Otitis media, Decreased circulating IgG level, Hypopigmentation ...	ORPHA:125
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Trichohepatoenteric Syndrome 1	Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Hepatomegaly, Increased mean platel...	OMIM:222470
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys, Respiratory insufficiency, Low posterior hairline, Seizure, Hyperton...	ORPHA:1895
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu...	OMIM:240500
Transcobalamin Deficiency	Lymphopenia, Abnormality of chromosome stability, Pancytopenia, Methylmalonic aciduria, Decreased...	ORPHA:859
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Eosinophilia, Pneumonia, Hearing impairment, Recurrent pneumonia, Chronic muc...	OMIM:158310
Neonatal Marfan Syndrome	Iridodonesis, Neonatal respiratory distress, Small for gestational age, Ectopia lentis, Hypoxemia...	ORPHA:284979
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Omenn Syndrome	Failure to thrive, Alopecia, Pneumonia, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Thyroidi...	ORPHA:39041
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Bilateral tonic-clonic seizur...	ORPHA:464282
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Low-set...	OMIM:242860
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti...	OMIM:618986
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Increased circulating procalcitonin concentration, Neutrophilia, Pneumonia,...	ORPHA:36238
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyo...	ORPHA:367
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of...	OMIM:208900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Failure to thrive, Decreased proportion of ...	ORPHA:276
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia	OMIM:603278
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Cataract, Pneumothorax, Recurrent pneumonia, Respiratory insu...	ORPHA:90349
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Protruding ear, Recurrent aspiration pneumonia, Intention tremor, Neonatal respiratory distress, ...	ORPHA:221139
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Ataxia, Dyspnea, Reticular hyperpigmentation, Nail pits, ...	OMIM:127550
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Obesity And Hypopigmentation	Red hair	OMIM:620195
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair,...	OMIM:252900
Brucellosis	Bronchitis, Chorea, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Infectious ...	ORPHA:1304
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Keratoconus, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repe...	OMIM:130050
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N...	OMIM:214900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Microcorn...	ORPHA:3214
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Anorexia, ...	ORPHA:2930
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Cardiomegaly	OMIM:613576
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Low po...	ORPHA:85194
Primary Dystonia, Dyt13 Type	Torticollis, Postural tremor, Involuntary movements, Jerky head movements, Action tremor	ORPHA:98807
Q Fever	Respiratory distress, Cholecystitis, Cough, Infectious encephalitis, Maculopapular exanthema, Per...	ORPHA:781
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,...	ORPHA:90362
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Spastic Paraplegia 11, Autosomal Recessive	Lower limb spasticity, Ataxia, Urinary incontinence, Impaired distal vibration sensation, Impaire...	OMIM:604360
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoimmune thromboc...	ORPHA:1855
Ogden Syndrome	Abnormal head movements, Torticollis, Cryptorchidism, Pulmonary artery stenosis, Fine hair, Hyper...	ORPHA:276432
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Methionine Malabsorption Syndrome	Tachypnea, Blue irides, White hair, Seizure, Aminoaciduria	OMIM:250900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent...	OMIM:242150
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ...	OMIM:614034
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Pericarditis, Ost...	ORPHA:449280
Noonan Syndrome 4	Abnormal bleeding, Ureteral duplication, Curly hair, Posteriorly rotated ears, Polyhydramnios, La...	OMIM:610733
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Pulmonary fibrosis, Bronchiolitis, Loss of ambulation, Frequent falls, Exertional dy...	ORPHA:254361
Sea-Blue Histiocytosis	Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ...	ORPHA:158029
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Tachypnea, Increased circulating mye...	ORPHA:36234
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Paresthesia, Cough, ...	ORPHA:2357
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Ly...	OMIM:102700
Usher Syndrome Type 2	Cataract, Ataxia, Sensorineural hearing impairment, Abnormality of the inner ear, Iris hypopigmen...	ORPHA:231178
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Unilateral lung agenesis, Failure to thrive in infancy, Generalized-onset seizure, Un...	ORPHA:500150
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Paraplegia, Weight loss, Restrictive ventilator...	ORPHA:98897
Absence Of The Pulmonary Artery	Orthopnea, Recurrent respiratory infections, Dyspnea, Nonproductive cough, Recurrent pneumonia, B...	ORPHA:980
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat...	OMIM:300280
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Choreoathetosis, Renal tubular acidosis, Progressive spastic quadriplegia, Organic aciduria, Seiz...	ORPHA:431361
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig...	ORPHA:204
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo...	OMIM:619752
New-Onset Refractory Status Epilepticus	Abnormal head movements, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363558
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Tubulointerstitial fibrosis, Hyper...	OMIM:607944
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Abnormal hair m...	ORPHA:2314
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne...	ORPHA:37042
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome...	OMIM:251880
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Fragile X Syndrome	Macroorchidism, postpubertal, Abnormal head movements, Folate-dependent fragile site at Xq28, Sei...	OMIM:300624
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Generalized hi...	ORPHA:2221
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Abnormal heart morphology	ORPHA:1067
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair,...	OMIM:252930
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Waardenburg Syndrome Type 3	Atelectasis, White hair, Spastic paraplegia, Tracheomalacia, Thick eyebrow, Hearing impairment	ORPHA:896
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Edema, Hypertonia, Hemolytic anemia, Chilblains, Pericardial effusion, Hepati...	OMIM:615846
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Gm1 Gangliosidosis	Tremor, Hydrops fetalis, Decerebrate rigidity, Aspiration pneumonia, Cherry red spot of the macul...	ORPHA:354
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79327
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count, Hyperpigmentation...	OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eosinophili...	OMIM:618282
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni...	OMIM:613807
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Koolen-De Vries Syndrome	Failure to thrive, Recurrent urinary tract infections, Small for gestational age, Eczema, Catarac...	OMIM:610443
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Abnormal fingernail morphology, Lymp...	ORPHA:662
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Conductive hearing i...	OMIM:244400
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Neutropenia, Maculopapular...	ORPHA:228119
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Hearing impairment, Abnormal lung lobation, Obesity, Renal cyst, ...	ORPHA:369837
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anorexia, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutropenia, Pancre...	ORPHA:79312
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro...	ORPHA:247815
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Renal insufficiency, Ataxia, Cataract, Cr...	ORPHA:2377
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Overweight, Tremor, Seizure, Hyperkinetic movements, Gait disturb...	ORPHA:457240
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Lym...	OMIM:619750
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra...	OMIM:620233
Sézary Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Nail dystrophy, Irregular hyperpigmentatio...	ORPHA:3162
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Abnormality of ...	ORPHA:177907
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Recurrent respiratory infections, Hemolytic anemia, Reticulocyto...	OMIM:618278
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Apnea, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesity, ...	OMIM:300055
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit...	OMIM:618886
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating IgG level, Psori...	ORPHA:183675
Congenital Disorder Of Glycosylation, Type Ia	Generalized-onset seizure, Edema, Tremor, Dysmetria, Renal cyst, Decreased circulating IgG level,...	OMIM:212065
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Keutel Syndrome	Peripheral pulmonary artery stenosis, Sinusitis, Calcification of the auricular cartilage, Hearin...	OMIM:245150
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Cryptorchidism,...	ORPHA:1867
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Recurrent skin infections, Abnormality of the kidney, Overweight, Recurrent upper respiratory tra...	ORPHA:391372
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve...	OMIM:618523
Shigellosis	Acute colitis, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, L...	ORPHA:810
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Perimembranous ...	OMIM:608104
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Proteinuria, Postural tremor, Ede...	OMIM:254900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Retinal cotton wool spot, Generalized-onset seizu...	ORPHA:247691
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Cryptorchidism, Slurred speech, Progressive cerebellar ataxia...	ORPHA:2834
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agita...	OMIM:619046
Sotos Syndrome	Ureteral duplication, Tremor, Pedal edema, Vesicoureteral reflux, Chronic otitis media, Conductiv...	ORPHA:821
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Immunodeficiency 40	Respiratory tract infection, Recurrent pneumonia, T lymphocytopenia, Interstitial pneumonitis, Re...	OMIM:616433
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos...	ORPHA:292
Marfan Syndrome	Pulmonary artery dilatation, Retinal detachment, Arthralgia/arthritis, Spontaneous pneumothorax, ...	ORPHA:558
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Small for gestational age, Ataxia, Bilateral tonic-clonic seizure,...	ORPHA:79243
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ...	ORPHA:1667
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Autosomal Dominant Cutis Laxa	Corneal opacity, Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Protruding ear, Bladd...	ORPHA:90348
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,...	ORPHA:2298
Mucopolysaccharidosis Type 3	Synophrys, Abnormal pyramidal sign, Coarse hair, Hypertonia, Aspiration pneumonia, Otitis media, ...	ORPHA:581
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Ataxia, Inability to walk, Chorea, Seizure, Respiratory failure, Spasti...	ORPHA:70472
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Loss of ambulation, Neonatal respiratory distress, Hypospadias, Brushfield spots, ...	OMIM:214100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he...	OMIM:212140
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Polyhydramnios, Cryptorchidism, Obesity, Respiratory insufficie...	OMIM:615633
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertension, Pericardia...	OMIM:619487
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Seborrheic dermatitis, Splenomegaly, Babinski sign, Truncal obesity, Low...	OMIM:301072
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory...	OMIM:615505
Acute Radiation Syndrome	Abnormal bleeding, Inflammatory abnormality of the skin, Cataract, Hyperpigmentation of the skin,...	ORPHA:454831
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o...	ORPHA:54251
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
48,Xxyy Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Apnea, Ataxia, Tremor, Cryptorchidism, Ast...	ORPHA:10
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Lymphangiectasis	OMIM:602579
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Renal insufficiency, Polyuria, Bronchiectasis, Stage 5 chronic ...	OMIM:619468
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating ...	OMIM:602450
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na...	OMIM:612649
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Recurrent pneumonia, Recurrent upper respiratory tract infections, Obesit...	OMIM:614962
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc...	ORPHA:824
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Familial Dysautonomia	Recurrent respiratory infections, Glomerulopathy, Renal insufficiency, Ataxia, Abnormality of the...	ORPHA:1764
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Increased circulating IgG level, Emphysem...	OMIM:619472
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ...	ORPHA:83471
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Prolonged prothromb...	ORPHA:91547
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,...	OMIM:614878
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au...	OMIM:616100
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho...	ORPHA:75564
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Hepatic Veno-Occlusive Disease	Renal insufficiency, Respiratory failure, Ascites, Increased body weight	ORPHA:890
Idiopathic Pulmonary Fibrosis	Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f...	ORPHA:2032
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Oculocerebrorenal Syndrome Of Lowe	Clonus, Chorioretinal dysplasia, Abnormal pupil morphology, Dehydration, Oligosacchariduria, Neph...	ORPHA:534
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ...	OMIM:618541
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Edema, Paronychia, Renal cyst, Gastrointestinal inflamm...	ORPHA:79404
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati...	ORPHA:70588
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Apnea, Palpebral edema, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmen...	OMIM:214110
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Pneumonia, Conductive hearing impairment, Optic atrophy, Respirato...	ORPHA:2135
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi...	OMIM:307200
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ...	OMIM:615518
Relapsing Polychondritis	Uveitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Alopecia, Atelectasis, Vertigo, Hepat...	ORPHA:728
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Decrea...	OMIM:615500
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Marfan Syndrome	Retinal detachment, Cataract, Ectopia lentis, Emphysema, Pneumothorax, Premature osteoarthritis, ...	OMIM:154700
Alg12-Cdg	Edema, Polyhydramnios, Micropenis, Hypospadias, Partial absence of specific antibody response to ...	ORPHA:79324
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:615504
Cornelia De Lange Syndrome 1	Ectopic kidney, Synophrys, Renal cyst, Microcornea, Hypertonia, Otitis media, Vesicoureteral refl...	OMIM:122470
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility, Hearing impairment	ORPHA:49042
Infection-Related Hemolytic Uremic Syndrome	Anuria, Edema, Nephrotic range proteinuria, Acute colitis, Hemolytic anemia, Respiratory tract in...	ORPHA:544482
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ketonuria, Apnea, Ataxia, Edema, Spastic hemiparesis, Leukocytosis, Tachypnea...	ORPHA:20
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension	ORPHA:79319
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ...	ORPHA:465508
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Speech apraxia, Epileptic spasm, Apnea, Bilateral tonic-cl...	ORPHA:314655
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, Cherry red...	ORPHA:845
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Chops Syndrome	Curly hair, Thick eyebrow, Cataract, Thick hair, Thickened helices, Splenomegaly, Cryptorchidism,...	OMIM:616368
Baralle-Macken Syndrome	Cataract, Urinary incontinence, Inability to walk, Focal-onset seizure, Obesity, Spasticity, Cafe...	OMIM:619255
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Wilson Disease	Thrombocytopenia, Splenomegaly, Increased body weight, Hepatitis, Weight loss, Clumsiness, Arthri...	ORPHA:905
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea,...	ORPHA:178320
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli...	ORPHA:69736
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Absent toenail, Right ...	OMIM:616028
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Petechiae, Cryptorchidism, Paraplegia, Anemia, L...	OMIM:617053
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia,...	OMIM:235510
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:613808
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Aspiration pneumonia...	ORPHA:53351
Cutis Laxa, Autosomal Recessive, Type Ib	Abnormal pinna morphology, Emphysema, Overgrowth, Low-set ears, Pulmonary artery aneurysm, Pulmon...	OMIM:614437
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Listeriosis	Respiratory distress, Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encephali...	ORPHA:533
Noonan Syndrome 13	Duplicated collecting system, Generalized-onset seizure, Posteriorly rotated ears, Highly arched ...	OMIM:619087
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai...	ORPHA:93952
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia...	ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy,...	OMIM:614702
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammagl...	OMIM:619705
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Cerebral edema	OMIM:608033
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi...	ORPHA:486
Infantile Neuroaxonal Dystrophy	Ataxia, Spastic tetraparesis, Unsteady gait, Abnormal pyramidal sign, Optic atrophy, Seizure, Apn...	ORPHA:35069
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Tako-Tsubo Cardiomyopathy	Dyspnea, Seizure, Obesity, Pulmonary edema	ORPHA:66529
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp...	OMIM:300291
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Chorea, X...	ORPHA:289390
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Generalized-onset seizure, Hypospadias, Large for gestational age, Cryptorchidism, As...	ORPHA:457485
Gaucher Disease, Type Ii	Apnea, Rigidity, Splenomegaly, Oculomotor apraxia, Stridor, Anemia, Seizure, Hypertonia, Cough, B...	OMIM:230900
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D...	OMIM:612650
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D...	OMIM:616481
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe...	ORPHA:64280
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b...	OMIM:619611
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin, Polyphagia, Cholestasis	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin, Polyphagia, Cholestasis	ORPHA:71526
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased circulating androgen co...	ORPHA:293978
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic ...	ORPHA:84064
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Gaucher Disease	Tremor, Osteoarthritis, Hydrops fetalis, Abnormality of skin pigmentation, Cherry red spot of the...	ORPHA:355
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem...	OMIM:210900
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ...	OMIM:616037
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Small for gestational age, Conductive hearing impairment, Bruising susce...	OMIM:616229
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in...	ORPHA:264675
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Chronic otitis media, Thromboc...	ORPHA:169090
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Ataxia, Eczema, Obesity, Protruding ear, Large earlobe, Seizure, Organic ac...	OMIM:620191
Progressive Hemifacial Atrophy	Seizure, Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat...	ORPHA:98850
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Morbilliform ra...	ORPHA:228123
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction...	OMIM:253250
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Angioedema, Hepatiti...	ORPHA:139402
Nail-Patella Syndrome	Impaired temperature sensation, Nephritis, Abnormality of the nail, Abnormality of the kidney, Th...	ORPHA:2614
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Hyperconvex nail, Prominent eyelashes, Lymphadenopath...	ORPHA:353298
Zellweger Syndrome	Multicystic kidney dysplasia, Posterior embryotoxon, Hypospadias, Abnormal chorioretinal morpholo...	ORPHA:912
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements	OMIM:245348
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hydrops fetalis, Hepatosplenomegaly, Seizure, Urinary glycosaminogl...	ORPHA:79255
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Neutropenia, Cough,...	ORPHA:73263
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Ketonuria, Ataxia, Lacticaciduria, Seizure, Myoclonus, Aspiration pneumonia	OMIM:619167
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Felty Syndrome	Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Thrombocytopenia, Splenomegaly, Lympha...	ORPHA:47612
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglobulin deposits, Sterile pyur...	ORPHA:449395
Legionnaires Disease	Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditi...	ORPHA:549
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Hypoplastic toenails, Splenomegaly, Hepatic fibro...	OMIM:616589
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Den Hoed-De Boer-Voisin Syndrome	Tremor, Ataxia, Overweight, Obesity, Nocturnal seizures, Seizure, Upper limb spasticity, Myoclonu...	OMIM:619229
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal...	ORPHA:505248
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Decreased nasal n...	OMIM:618063
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Eczema, Hearing impairment, Sclerocornea, Cryptor...	ORPHA:284160
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia	OMIM:616730
Angelman Syndrome	Broad-based gait, Ataxia, Blue irides, Obesity, Limb tremor, Clumsiness, Seizure, Progressive gai...	OMIM:105830
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H...	OMIM:201475
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Dehydrati...	ORPHA:2552
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Cataract, Proteinuria, Anterio...	ORPHA:1018
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic...	OMIM:613070
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Hypospadias, Polyhydramnios, Bilateral cryptorch...	OMIM:300219
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Intellectual Developmental Disorder, Autosomal Recessive 50	Sensorineural hearing impairment, Heterochromia iridis	OMIM:616460
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Alopecia, Ataxia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Pr...	OMIM:212750
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn...	ORPHA:3384
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Thromboc...	ORPHA:3322
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce...	OMIM:602782
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,...	OMIM:615444
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Niemann-Pick Disease Type C	Generalized-onset seizure, Bone-marrow foam cells, Fetal ascites, Tremor, Abnormal lung morpholog...	ORPHA:646
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis, Tremor	ORPHA:66633
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee...	ORPHA:79128
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath...	OMIM:619644
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Decrea...	ORPHA:89842
Horner Syndrome, Congenital	Heterochromia iridis, Paralysis	OMIM:143000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D...	ORPHA:42
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Cholesteryl Ester Storage Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t...	ORPHA:79138
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Hyposegmentation of neutrophil nu...	OMIM:620075
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular...	ORPHA:1390
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Atelectasis, Inability to walk, Focal-onset seizure, Generalized non-m...	ORPHA:258
22Q11.2 Deletion Syndrome	Impaired T cell function, Polyhydramnios, Abnormal lung lobation, Hypoplasia of the thymus, Vesic...	ORPHA:567
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Lysinuric Protein Intolerance	Splenomegaly, Oroticaciduria, Intraalveolar phospholipid accumulation, Respiratory insufficiency,...	OMIM:222700
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Bronchial Neuroendocrine Tumor	Pneumonia, Elevated circulating growth hormone concentration, Dyspnea, Nonproductive cough, Asthm...	ORPHA:97287
Cantu Syndrome	Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenital hypertroph...	OMIM:239850
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Spastic paraplegia, Blue irides, Hypopigmented skin patches, Sensori...	OMIM:148820
Intellectual Developmental Disorder, Autosomal Recessive 38	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Unsteady gait, Blue irides	OMIM:615516
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Ocular Motor Apraxia	Oculomotor apraxia, Jerky head movements, Nephronophthisis	OMIM:257550
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Classic Phenylketonuria	Hypopigmentation of hair, Self-injurious behavior, Attention deficit hyperactivity disorder, Hype...	ORPHA:79254
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ...	OMIM:614679
Abetalipoproteinemia	Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Steppage gait, H...	ORPHA:14
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Smith-Magenis Syndrome	Retinal detachment, Impaired pain sensation, Synophrys, Abnormal renal morphology, Increased body...	OMIM:182290
Hsd10 Disease, Infantile Type	Restlessness, Cardiomegaly, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bu...	ORPHA:391428
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr...	OMIM:617091
Digeorge Syndrome	Impaired T cell function, Sclerocornea, Hypoplasia of the thymus, Acne, Decreased circulating par...	OMIM:188400
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de...	OMIM:620296
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Noonan Syndrome 8	Curly hair, Eczema, Polyhydramnios, Large for gestational age, Cryptorchidism, Low-set ears, Pleu...	OMIM:615355
Lissencephaly Due To Lis1 Mutation	Infantile spasms, Polyhydramnios, Focal motor seizure, Tetraplegia, Opisthotonus, Progressive spa...	ORPHA:95232
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Anemia	OMIM:614450
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio...	ORPHA:160
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Senior-Loken Syndrome 9	Retinal dystrophy, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Macular...	OMIM:616629
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Cryptorchidism, Blue irides, Obesity, Red hair, Fair hair	OMIM:614613
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Right ventricular ...	OMIM:601214
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Corneal scarring, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cone/cone-rod...	ORPHA:404454
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ...	OMIM:614935
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Seizure, Aminoaciduria, Bone marrow hypocellularity...	OMIM:614520
Sialuria	Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Hypoplastic nipples, Attention def...	OMIM:269921
Wilson Disease	Hepatomegaly, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, ...	OMIM:277900
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Constrictive peric...	ORPHA:67
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, An...	ORPHA:811
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Ataxia, Pneumonia, Respiratory tract infection, Pustule, Hemiparesis, Intrarenal absce...	ORPHA:68
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Reni Syndrome	Lymphopenia, Hypoalbuminemia, Hyperpigmentation of the skin, Hypertriglyceridemia	OMIM:617575
Roifman-Chitayat Syndrome	Pneumonia, Ectopic kidney, Optic atrophy, Arthritis, Generalized myoclonic seizure	OMIM:613328
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnormality of the spleen, Lymphaden...	ORPHA:79456
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Edema, Polyhydramnios, Cryptorchidism, Abnormal resp...	ORPHA:98905
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Splenomegaly...	OMIM:306400
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Pericardial effusion, Crypt...	OMIM:618280
Degcags Syndrome	Polyhydramnios, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Vocal cord paralysi...	OMIM:619488
Nijmegen Breakage Syndrome	Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Abn...	ORPHA:647
Peroxisome Biogenesis Disorder 5A (Zellweger)	Generalized-onset seizure, Renal cyst, Hypospadias, Brushfield spots, Cryptorchidism, Hepatosplen...	OMIM:614866
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Pancytopenia, Recurrent urinary tract infections, Ataxia, Pneumonia, Highly ar...	ORPHA:309282
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, Respiratory ins...	OMIM:618329
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau...	ORPHA:186
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ...	OMIM:616005
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Large for gestational age, Overgrowth, Nephroblastoma, Enlarged kidney	OMIM:618272
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Laurence-Moon Syndrome	Ataxia, Spastic paraplegia, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis	OMIM:245800
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro...	OMIM:619381
Immunodeficiency 10	Nail dysplasia, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ...	OMIM:617092
Squalene Synthase Deficiency	Bicuspid aortic valve, Increased circulating farnesol concentration, Abnormality of hair pigmenta...	OMIM:618156
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Kikuchi-Fujimoto Disease	Hepatomegaly, Alopecia, Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive pr...	ORPHA:50918
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi...	OMIM:606763
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Increased body weight, Horseshoe kidney,...	OMIM:300860
Congenital Fibrinogen Deficiency	Abnormal bleeding, Abnormality of the subungual region, Internal hemorrhage, Splenic rupture, Opi...	ORPHA:335
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lafora Disease	Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal...	ORPHA:501
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Aplastic anemia, Renal agenesis, Optic disc hypoplasia, Abno...	OMIM:300514
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Loss of ambulation, Restrictive ventilatory defect, Pneumonia	OMIM:253700
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Posteriorly rotated ears, Ureteral hypoplasia, Polyhydramn...	OMIM:614080
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly	ORPHA:99931
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, He...	ORPHA:39812
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis, Sparse hair, Hy...	OMIM:615508
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Timothy Syndrome	Pulmonary arterial hypertension, Seizure, Pneumonia, Bronchitis	OMIM:601005
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time, Esophagitis	ORPHA:1901
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial ...	ORPHA:77259
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Impaired pain sensation, Cryptorchidism, Obesity, Atopic dermat...	ORPHA:412035
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Pulmonary embolism, Tremor, ...	ORPHA:94093
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Recurrent pneumonia, Recurrent upper respiratory tract infections, Persistence of hem...	OMIM:619769
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Splenomegaly, Anemia, A...	OMIM:230800
Sialuria	Upper airway obstruction, Hepatosplenomegaly, Seizure, Prolonged prothrombin time, Hyperkinetic m...	ORPHA:3166
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Generalized hirsutism, Abnormality of the nail,...	ORPHA:2348
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Stapes ankylosis, Abnormality of the middle ear ossic...	ORPHA:90646
Neonatal Lupus Erythematosus	Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di...	ORPHA:398124
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infe...	OMIM:251260
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickene...	ORPHA:261494
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Retinal dystrophy, Chronic kidney disease...	ORPHA:261222
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Cog8-Cdg	Ataxia, Spontaneous hematomas, Prolonged prothrombin time, Seizure, Myoclonus, Failure to thrive	ORPHA:95428
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, White eyelashes, Ataxia, White eyebrow, Cryptor...	OMIM:609136
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Absent toenail, Absent fingernail...	ORPHA:158687
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj...	ORPHA:53035
Megalocornea	Retinal detachment, Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Macrocephaly/Autism Syndrome	Speech apraxia, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased cir...	OMIM:605309
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Cataract, Ataxia, ...	OMIM:209900
Icf Syndrome	Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils...	ORPHA:2268
Revesz Syndrome	Abnormality of chromosome stability, Aplastic anemia, Ataxia, Leukocoria, Nail pits, Fine hair, E...	OMIM:268130
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L...	OMIM:617713
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, Ataxia, Skin ...	ORPHA:90062
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru...	OMIM:617093
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Elevated circulating C-reactive protein concentration, Follicular ...	OMIM:615934
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Melioidosis	Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Abnormality of the sple...	ORPHA:31202
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Marburg Hemorrhagic Fever	Nonproductive cough, Uveitis, Dehydration, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyt...	ORPHA:99826
Obesity Due To Congenital Leptin Deficiency	Decreased serum leptin, Recurrent upper respiratory tract infections, Decreased T cell activation...	ORPHA:66628
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Hypermelanotic ...	ORPHA:33276
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Scrub Typhus	Myocarditis, Splenomegaly, Lymphadenopathy	ORPHA:83317
Cutaneous Mastocytoma	Hypermelanotic macule, Hyperpigmentation of the skin, Lymphadenopathy	ORPHA:79455
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracra...	ORPHA:99147
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Dilated cardiomyopathy, Premature g...	OMIM:613989
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Kleefstra Syndrome 1	Recurrent respiratory infections, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Synophr...	OMIM:610253
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Renal neoplasm, Torticollis, Mixed hearing impairment, Posteriorly rotated ...	ORPHA:536467
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia, Polyphagia, Cholestasis	OMIM:609734
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Decreased serum leptin, Recurrent upper respiratory t...	ORPHA:179494
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Distal Triplication 15Q	Abnormality of the kidney, Corneal dystrophy, Large for gestational age, Birth length greater tha...	ORPHA:314588
Short-Rib Thoracic Dysplasia 12	Posteriorly rotated ears, Abnormal pinna morphology, Edema, Polyhydramnios, Splenomegaly, Atelect...	OMIM:269860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplastic toena...	OMIM:608836
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Hyperinsulinemia, Increased body weight, Seizure, Hyperinsulinemic hypoglycemia	ORPHA:276608
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Seizure, Respiratory failure, Interstitial pneumonitis, Ac...	ORPHA:330021
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy...	OMIM:304790
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Sim1-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Impaired temperature sensation, Crypt...	ORPHA:398079
Adrenocortical Carcinoma	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:1501
Cantú Syndrome	Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster...	ORPHA:1517
Sandifer Syndrome	Abnormal head movements, Torticollis, Hematemesis, Esophagitis, Anemia	ORPHA:71272
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Seizure, Abno...	ORPHA:251004
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cou...	ORPHA:95455
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Ascites, Prolonged prothrombin time, Pleural effusion, Failure to thrive	OMIM:617049
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hearing impairment, Respiratory insufficiency due to muscle weak...	ORPHA:365
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Hyperactivity, Ventricular septal defect, Dextrocardia, Synophrys, Coronary ar...	OMIM:614294
Beck-Fahrner Syndrome	Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate...	OMIM:208540
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased T cell count, Nail dystrophy, I...	ORPHA:98813
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly	OMIM:266500
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal...	ORPHA:2969
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Renal insufficiency, Apnea, ...	ORPHA:397715
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Anorexia, Splenomegaly, ...	ORPHA:3452
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Ureterocele, Sparse hair, Vesicoureteral reflux, Micropenis, Conductive hearing impai...	OMIM:129900
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Epistaxis, Angioid streaks of the fundus, Prolonged prothrombin time, Retinal ...	OMIM:610842
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tremor, Synophrys, Hypertrophy of the urinary bladder, Large fleshy ears, Prominent superior crus...	ORPHA:280633
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231226
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Recurrent respiratory infections, Thick eyebrow, Posteriorly rotated ears, Bilateral tonic-clonic...	ORPHA:466950
Acquired Purpura Fulminans	Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrh...	ORPHA:49566
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestatio...	ORPHA:544488
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hypoventilation, Inability to walk, Unsteady gait, Recurrent pneumonia, Obesity, Optic atrophy, S...	OMIM:618493
Thyroid Lymphoma	Dysphagia, Lymphadenopathy	ORPHA:97285
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ...	ORPHA:79396
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol...	OMIM:617156
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,...	ORPHA:26793
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Impaired temperature sensation, Crypt...	ORPHA:398069
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep...	OMIM:618641
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Dysphagia, Ascite...	OMIM:608013
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocy...	OMIM:617591
Cholera	Abnormality of renal excretion, Tachypnea, Dehydration, Seizure, Aspiration pneumonia, Acute kidn...	ORPHA:173
Mucopolysaccharidosis, Type Vi	Corneal opacity, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan ...	OMIM:253200
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatos...	ORPHA:1333
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis, Lymphadenopathy...	ORPHA:2686
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Microvesicular h...	OMIM:619418
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypoplastic toenails, Synophrys, Aspiration pneumonia, Conductive hearing impairment, Vesicourete...	ORPHA:444077
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn...	OMIM:618183
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosi...	ORPHA:2137
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Insulinoma	Tremor, Hearing abnormality, Fasting hyperinsulinemia, Hyperinsulinemia, Increased body weight, S...	ORPHA:97279
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Sotos Syndrome	Posteriorly rotated ears, Abnormality of the kidney, Sparse eyebrow, Cryptorchidism, Poor coordin...	OMIM:117550
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Pneumonia, Increased circulating ACTH level, Seizure, Abnor...	ORPHA:90790
Abcd Syndrome	White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Albinism, Large for gestatio...	OMIM:600501
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lym...	ORPHA:1655
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Joubert Syndrome 8	Optic disc pallor, Ataxia, Obesity, Pigmentary retinopathy, Hypertonia, Oculomotor apraxia, Hyper...	OMIM:612291
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Low anterior hairline, Lymphadenopathy, Acute leukemia	ORPHA:99812
Knobloch Syndrome 1	Myoclonic seizure, Persistent pupillary membrane, Attenuation of retinal blood vessels, Renal dup...	OMIM:267750
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Cerebellar hemorrhage, Cerebral edema, Prolonged prothrombin time, Failure...	ORPHA:99901
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Abnormal chorioretinal morphology, Dilatated internal auditory canal, C...	ORPHA:1435
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypoch...	ORPHA:514
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Large for gestational age, Tremor, Hyperinsulinemia, Increased body weight, Glycosur...	ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Sensorineural hearing impairment, Low-set ears, Aspiration pneumonia...	OMIM:616430
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ex...	ORPHA:233
Miller-Dieker Lissencephaly Syndrome	Epileptic spasm, Cataract, Posteriorly rotated ears, Infantile spasms, Polyhydramnios, Cryptorchi...	OMIM:247200
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia	ORPHA:99772
Medullary Thyroid Carcinoma	Dysphagia, Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ataxia, Oroticaciduria, Seizure, Prolonged prothrombin time, Episodic ataxia, Failure to thrive, ...	OMIM:311250
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Rabin-Pappas Syndrome	Hypoventilation, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplas...	OMIM:620155
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Neurofibromatosis Type 1	Chorioretinal coloboma, Heterochromia iridis, Ataxia, Abnormality of the upper urinary tract, Cry...	ORPHA:636
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Monosomy 13Q34	Posteriorly rotated ears, Epistaxis, Fetal pyelectasis, Obesity, Abnormal earlobe morphology, Hem...	ORPHA:96168
Marshall-Smith Syndrome	Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Hypertonia, Aspiration pneumonia, Spars...	OMIM:602535
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Bilateral cryptorchidism, Sensorineural hearing impairment, Recurrent p...	OMIM:300472
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Hypermelanotic macule, Elevated circulating C-reactive protein concentration, Splen...	ORPHA:32960
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Addictive al...	ORPHA:520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Xerostomia, Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Cryptorchidism, Blue ...	OMIM:604292
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100080
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morphology, Hirsutism	ORPHA:2463
Noonan Syndrome 9	Curly hair, Hydroureter, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchidism, Prolonge...	OMIM:616559
Adiposis Dolorosa	Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Xerostomia, Obesity, Arthriti...	ORPHA:36397
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Hyperpigmentation of the skin, Micro...	ORPHA:168569
Poems Syndrome	Pericardial effusion, Leukonychia, Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Viscer...	ORPHA:2905
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Alopecia, Pericardial effusion, Lymphadenopathy, Leukopenia, Microangiopathic hemoly...	ORPHA:93552
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	OMIM:268800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Autoimmune thr...	ORPHA:391487
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Large for gestational age, Gait ataxia, Myoclonic seizure, Chorioretinal colobo...	OMIM:280000
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Abnormality of the nail, Cardiomegaly	ORPHA:349
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Extramedullary hematopoiesis, Renal cyst, Prolonged prothrombin...	ORPHA:79303
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Splenomegaly, Sensorineural hearin...	ORPHA:163746
Prader-Willi Syndrome	Recurrent respiratory infections, Hypopigmentation of the skin, Hypopigmentation of hair, Edema, ...	ORPHA:739
Doors Syndrome	Respiratory distress, Polyhydramnios, Low anterior hairline, Nephrocalcinosis, Absent fingernail,...	ORPHA:79500
Trisomy 8P	Posteriorly rotated ears, Cryptorchidism, Fetal pyelectasis, Recurrent upper respiratory tract in...	ORPHA:264450
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Anaplastic Thyroid Carcinoma	Dysphagia, Lymphadenopathy	ORPHA:142
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicysti...	ORPHA:110
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly	OMIM:616897
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Splenomegaly, Med...	ORPHA:379
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Splenome...	OMIM:263700
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb...	ORPHA:567983
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Chylous ascites, Hypoa...	ORPHA:90363
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Purpura, Petechiae, Hypopnea, Leukopenia, Prolonged prothr...	ORPHA:2330
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Microcornea, Iri...	OMIM:617306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Dysphagia, Right ventricular hypertrophy, Car...	ORPHA:268
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Seizure, Pro...	OMIM:619055
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremo...	OMIM:614947
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia	OMIM:239200
Coffin-Siris Syndrome	Hypoplastic fifth toenail, Sparse scalp hair, Thick eyebrow, Hypospadias, Hearing impairment, Cry...	ORPHA:1465
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Williams Syndrome	Hypoplasia of penis, Hypoplastic toenails, Tremor, Periorbital edema, Dysmetria, Abnormal tubuloi...	ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Broad-based gait, Exaggerated startle response, Apnea, Involuntary movements, Ep...	ORPHA:438213
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Clonic seizure, Synophrys, Protruding ear, Abnormality of skin pigmentation, Hypertonia, ...	OMIM:619475
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Seizure, ...	OMIM:619482
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Kabuki Syndrome 1	Protruding ear, Micropenis, Recurrent aspiration pneumonia, Hemolytic anemia, Highly arched eyebr...	OMIM:147920
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, P...	ORPHA:71212
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Nail-Patella Syndrome	Ridged nail, Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Concave...	OMIM:161200
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Lymphedema, Abnormal lung lobation, Renal cyst, Abnorm...	ORPHA:744
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ...	OMIM:619534
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Renal insufficiency, Periodic paralysis, Splenomegaly, Nephrocalcino...	OMIM:276700
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Ataxia, Renal agenes...	ORPHA:478
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Cataract, Hypospadias, Pneu...	ORPHA:353281
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Posteriorly rotated ears, Bilateral tonic-clonic seizure, Asthma, Nasal flaring, Synophrys, Obesi...	ORPHA:466943
Plague	Respiratory distress, Chapped lip, Abnormal bleeding, Skin rash, Mydriasis, Edema, Erythema nodos...	ORPHA:707
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Porta...	OMIM:207800
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Palpebral edema, Abnormality of the upper urinary tract, Highly arched eyebrow, Iris...	ORPHA:2995
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Somatic sensory dysfunction, Fasciitis, Osteomyelitis, Impaired temperature s...	ORPHA:642
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Splenomegaly, Choles...	OMIM:270400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Apnea, Elevated circulating growth hormone concentration, Large for gestational age, S...	ORPHA:79644
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Acne, Paradoxical increased cortisol secretion on dex...	ORPHA:189427
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:308552
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Wiedemann-Rautenstrauch Syndrome	Hypertonia, Hypoplasia of the thymus, Small earlobe, Intention tremor, Absent eyebrow, Alopecia, ...	OMIM:264090
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Thymic Neuroendocrine Tumor	Hypercalcemia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of ...	ORPHA:97289
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Cystinosis, Nephropathic	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypopigment...	OMIM:219800
Chronic Graft Versus Host Disease	Fasciitis, Xerostomia, Abnormality of skin pigmentation, Cough, Alopecia, Bronchiectasis, Bronchi...	ORPHA:99921
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Osteoarthritis, Bladder diverticulum, Blepharochalasis, Joint swelling, ...	ORPHA:287
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Anorexia, Splenomegaly, Lymphadenopa...	ORPHA:33226
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Small for gestational age, Elevated circulating thyr...	OMIM:274300
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:100082
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Iris coloboma, A...	ORPHA:1791
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Obesit...	ORPHA:552
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis, Abnormal B-type natriuretic peptide conc...	ORPHA:100093
Chand Syndrome	Curly hair, Hydroureter, Ataxia, Atelectasis, Nail dysplasia	ORPHA:1401
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroi...	OMIM:101800
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card...	OMIM:620306
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Juvenile Polyposis Of Infancy	Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia	ORPHA:79076
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ...	ORPHA:3205
Koolen-De Vries Syndrome	Ureteral duplication, Hypopigmentation of hair, Cataract, Hypospadias, Abnormality of hair textur...	ORPHA:96169
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Thick eyebrow	OMIM:230000
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse eyebrow, Sp...	OMIM:252500
Brittle Cornea Syndrome 1	Red hair, Mitral valve prolapse	OMIM:229200
Arboleda-Tham Syndrome	Respiratory distress, Bilateral cryptorchidism, Anteverted ears, Conjunctivitis, Chronic otitis m...	OMIM:616268
Acrofrontofacionasal Dysostosis	Hypospadias, Brushfield spots, Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the e...	ORPHA:1784
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Sy...	OMIM:193500
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperpigmentation of...	OMIM:256040
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt...	ORPHA:699
Yellow Fever	Abnormal bleeding, Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Renal insufficiency, Exce...	ORPHA:99829
Williams-Beuren Syndrome	Vocal cord paralysis, Premature graying of hair, Nephrocalcinosis, Vesicoureteral reflux, Micrope...	OMIM:194050
Cystic Fibrosis	Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R...	OMIM:219700
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, Otitis media, Conductive hearing impairment, Vesicoureteral reflux, Aspiration, H...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, Otitis media, Conductive hearing impairment, Vesicoureteral reflux, Aspiration, H...	ORPHA:353277
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Ataxia, Sensorineural hearing impairment, Obesity, Abnormal granulocyte morphology, Dif...	ORPHA:98907
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis...	ORPHA:100086
Hypermethioninemia Due To Adenosine Kinase Deficiency	Seizure, Prolonged prothrombin time, Failure to thrive, Sensorineural hearing impairment	OMIM:614300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Overweight, Sensorineural hearing impairment, Hematochezia, Ren...	OMIM:619575
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Abnormality of hair texture, Splenomegaly, Lym...	ORPHA:667
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Polyhydramnios, Large for gestational age, Cry...	OMIM:229850
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia, Hyperpigment...	ORPHA:293173
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inappropriate laughter, Highly arched eyebrow, Cardiomegaly	OMIM:618143
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Sensorineural hearing impairment, Corneal erosion, Abnorma...	ORPHA:90354
Hennekam Syndrome	Sparse axillary hair, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenop...	ORPHA:2136
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Acne, Paradoxical increased cortisol secreti...	ORPHA:96253
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Nephrocalc...	ORPHA:94086
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Recurrent respiratory infections, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bila...	OMIM:614231
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Acne, Increased body weight, Increased circulating cortisol level, Primary hypercortiso...	OMIM:615830
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Alström Syndrome	Respiratory distress, Urinary incontinence, Elevated circulating thyroid-stimulating hormone conc...	ORPHA:64
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Hypoalbuminemia, Small nail	OMIM:251300
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia, Polyhydramnios	OMIM:617809
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Pmm2-Cdg	Respiratory distress, Lymphedema, Elevated circulating thyroid-stimulating hormone concentration,...	ORPHA:79318
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Po...	OMIM:269700
Xfe Progeroid Syndrome	Ascites, Hypoalbuminemia	OMIM:610965
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Low-set ears, Neutropenia, Failure to thrive, Thro...	OMIM:617941
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbilirubinemia, Cholest...	ORPHA:30391
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites, Anemia	ORPHA:139411
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Low posterior h...	OMIM:245600
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia, Retinal coloboma	OMIM:258865
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Cystic Fibrosis	Recurrent respiratory infections, Sinusitis, Nasal polyposis, Hearing impairment, Reduced forced ...	ORPHA:586
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Polyhydramnios, Sclerocornea, Abnormal lung lobation, Hypertonia, Iris colob...	ORPHA:818
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Gaisböck Syndrome	Overweight, Dyspnea, Splenomegaly, Vertigo, Increased mean corpuscular hemoglobin concentration, ...	ORPHA:90041
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto...	ORPHA:3260
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Iris atrophy, Optic disc pallor, Cataract, Reti...	ORPHA:263479
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Ascites, Hypoalbuminemia	ORPHA:567546
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Polyphagia, Cardiomyopathy,...	OMIM:608594
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weight, Renal tubular acidosis, M...	ORPHA:264580
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Recurrent cutaneous fungal infections, Pedal edema, Hypergastrinemia, Ecch...	ORPHA:99889
Infantile Liver Failure Syndrome 2	Seizure, Prolonged prothrombin time	OMIM:616483
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Hyperpigmentation of the skin, Anisocyt...	ORPHA:79277
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Abnormal pulmonary valve cusp morp...	ORPHA:100075
Opitz Gbbb Syndrome	Hypospadias, Posteriorly rotated ears, Tracheomalacia, Cryptorchidism, Widow's peak, Stridor, Abn...	ORPHA:2745
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Fontaine Progeroid Syndrome	Synophrys, Low anterior hairline, Coarse hair, Conductive hearing impairment, Micropenis, Recurre...	OMIM:612289
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Alobar Holoprosencephaly	Central apnea, Abnormal central motor function, Inability to walk, Sensorineural hearing impairme...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Abnormal central motor function, Inability to walk, Sensorineural hearing impairme...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Abnormal central motor function, Inability to walk, Sensorineural hearing impairme...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Abnormal central motor function, Inability to walk, Sensorineural hearing impairme...	ORPHA:220386
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Large for gestational age, Macrotia, Sensorineural hear...	OMIM:617107
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Hypo...	OMIM:614748
Joubert Syndrome 39	Pain insensitivity, Retinal dystrophy, Overweight, Hypopnea, Polycystic kidney dysplasia, Oculomo...	OMIM:619562
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the sweat glands, Sparse hair	OMIM:612132
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas...	ORPHA:99827
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Kawasaki Disease	Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Myocarditis, Cervical l...	ORPHA:2331
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m...	ORPHA:2020
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Central hypoventilation, Impaired pain sensation, Asthma, Recurrent upper respir...	ORPHA:293987
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Monosomy 22Q13.3	Renal dysplasia, Recurrent skin infections, Palpebral edema, Impaired pain sensation, Hypoplastic...	ORPHA:48652
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope...	OMIM:619525
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Increased body weight, Renal tubular acidosis, Myoglobinuria, Anemia	ORPHA:79240
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Giant cell hepatitis, Prolonged prothrombin time, Failure to thrive	OMIM:214950
Familial Mediterranean Fever	Pericarditis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis	ORPHA:342
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega...	OMIM:300967
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Chorea, Intracranial hemorr...	ORPHA:565
Bohring-Opitz Syndrome	Cardiomegaly, Synophrys, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas, Hy...	ORPHA:97297
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Beckwith-Wiedemann Syndrome	Ureteral duplication, Polyhydramnios, Large for gestational age, Vesicoureteral reflux, Nephropat...	ORPHA:116
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple c...	ORPHA:158000
Down Syndrome	Brushfield spots, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Microtia,...	OMIM:190685
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Penile hypospadias, Recurrent aspiration pneumonia	ORPHA:73230
Neuroocular Syndrome	Brittle hair, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hypoplasia of the fovea, High...	OMIM:619539
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Bilateral cryptorchidism, Asthma, Obesity, Astigmatism, Retinal vascula...	OMIM:619471
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Behçet Disease	Pericarditis, Anorexia, Splenomegaly, Endocarditis, Lymphadenopathy, Abnormal myocardium morpholo...	ORPHA:117
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s...	ORPHA:100078
Leptospirosis	Hepatomegaly, Pericarditis, Anorexia, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thr...	ORPHA:509
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Hypoplastic fingernail, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi...	ORPHA:51
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100079
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Increased body weight	ORPHA:64745
Yunis-Varon Syndrome	Polyhydramnios, Sclerocornea, Hydrops fetalis, Protruding ear, Absent fingernail, Aspiration pneu...	OMIM:216340
Blau Syndrome	Pericarditis, Hyperpigmentation of the skin, Splenomegaly, Lymphadenopathy, Abnormality of the li...	ORPHA:90340
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:536
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,...	ORPHA:790
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, Enlarged kidney	OMIM:130650
African Trypanosomiasis	Hepatomegaly, Pericarditis, Alopecia, Aggressive behavior, Splenomegaly, Jaundice, Myocarditis, H...	ORPHA:3385
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Yunis-Varon Syndrome	Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Cardiomegaly, Sparse eyebrow, Car...	ORPHA:3472
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal...	ORPHA:449563
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Hemiplegia/hemiparesis, Lens coloboma, Seizure, R...	ORPHA:42775
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy	ORPHA:449432
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Chikungunya	Cervical lymphadenopathy, Depigmentation/hyperpigmentation of skin, Lymphadenopathy	ORPHA:324625
Carney Complex	Macroorchidism, Elevated circulating growth hormone concentration, Testicular neoplasm, Ductal ca...	ORPHA:1359
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca...	ORPHA:51608
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterior hairline, Ony...	OMIM:182250
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy	ORPHA:79078

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.

There is no histopathology data for Bloc1s6

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Bloc1s6.

No publications found that use IMPC mice or data for Bloc1s6.

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MGI Allele	Allele Type	Produced
Bloc1s6^{tm271492(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bloc1s6^{tm271492(L1L2_6XOspnEnh_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bloc1s6^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Bloc1s6 MGI:1927580

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Histopathology

Human diseases caused by Bloc1s6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data