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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 eye morphology	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
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
enlarged spleen	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	0.00
hyperactivity	Bloc1s6^em1(IMPC)Mbp	HOM	Early adult	4.97×10^-05
enlarged heart	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

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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 Lateral Orientation

10 Images

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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 (1382 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		Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnorm...	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	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	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
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
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
Hermansky-Pudlak Syndrome 2	Low-set ears, Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosple...	OMIM:608233
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormality of neutrophils, Recurrent respiratory infections, Panc...	ORPHA:2585
Hermansky-Pudlak Syndrome 6	Hearing impairment, Albinism, Urinary incontinence, Hypopigmentation of the skin, Impaired arachi...	OMIM:614075
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Hermansky-Pudlak Syndrome 4	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ocular albinism, Hypoplasia of the fovea, ...	OMIM:614073
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II...	OMIM:273800
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Epistaxis, Hypopigmentation of the skin, Inflammation of the lar...	OMIM:203300
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Free Sialic Acid Storage Disease	Iris hypopigmentation, Spasticity, Seizure, Ascites, Failure to thrive in infancy, Splenomegaly, ...	ORPHA:834
Hypocomplementemic Urticarial Vasculitis	Angioedema, Sensorineural hearing impairment, Hematuria, Ataxia, Inflammatory abnormality of the ...	ORPHA:36412
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Abnormal dense granules, Neutropenia, Ataxia, Giant melanosomes ...	OMIM:214500
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Glanzmann Thrombasthenia 2	Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ...	OMIM:619267
Hermansky-Pudlak Syndrome 11	Gingival bleeding, Albinism, Epistaxis, Fair hair, Bruising susceptibility, Ocular albinism, Mela...	OMIM:619172
Hermansky-Pudlak Syndrome 7	Epistaxis, Bruising susceptibility, Ocular albinism, Prolonged bleeding after dental extraction, ...	OMIM:614076
Hermansky-Pudlak Syndrome 5	Albinism, Epistaxis, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggr...	OMIM:614074
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit...	OMIM:155100
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnorm...	OMIM:614171
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Irregular hyperpigmentation, Sparse scalp hair, Eczematoid dermati...	ORPHA:634
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Preeclampsia	Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Pulmonary edema, T...	ORPHA:275555
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I...	OMIM:618462
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Abnor...	ORPHA:79430
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly, Anorexia	ORPHA:52416
Hermansky-Pudlak Syndrome 3	Gingival bleeding, Hypopigmentation of the skin, Abnormal bleeding, Bruising susceptibility, Spon...	OMIM:614072
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Spasticity, Hearing impairment, Failure to thrive, Seizure, 3-Me...	ORPHA:67048
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Gingival bleeding, Epistaxis, Bruising susceptibility, Myopic astigmatism, Ocul...	OMIM:614077
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hypochromic anemia, Hearing impairment, White hair, Ocular albin...	ORPHA:2720
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Sensorineural hearing impairment, Thrombocytopenia, Impaired platelet aggregation, Macrothrombocy...	OMIM:124900
Mogs-Cdg	Generalized edema, Optic atrophy, Decreased circulating IgG level, Alopecia, Fair hair, Seizure, ...	ORPHA:79330
Hermansky-Pudlak Syndrome 10	Low-set ears, Focal myoclonic seizure, Ocular albinism, Splenomegaly, Neutropenia, Bilateral toni...	OMIM:617050
Vici Syndrome	Low-set ears, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Sensorineural hea...	OMIM:242840
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Aminoaciduria, Seizure, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet...	OMIM:603585
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Epistaxis, Bruising susceptibility, Ocular albinism, Incoordination, Abnormali...	ORPHA:352723
Ethanolaminosis	Cardiomegaly	OMIM:227150
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,...	OMIM:619271
Bleeding Disorder, Platelet-Type, 11	Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu...	OMIM:614201
Immunodeficiency 20	Reduced natural killer cell count, Recurrent otitis media, Recurrent viral upper respiratory trac...	OMIM:615707
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Hearing impairment, Seizure, Paraplegia, Limb ataxia, Positive R...	OMIM:105210
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Immunodeficiency 51	Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc...	OMIM:613953
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int...	OMIM:619281
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Prolonged bleeding time, Abnormal optic nerve morpho...	ORPHA:3226
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet...	ORPHA:231393
Platelet Signal Processing Defect	Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair...	OMIM:173590
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Spasticity, Abnormality of the urinary system, Ureteral stenosis...	ORPHA:2719
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Bruising susceptibility, Prolonged bleeding time, Presen...	ORPHA:182050
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Athrombia, Essential	Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega...	OMIM:209050
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Spasticity, Bone marrow hypocellularity, Hypopigmented s...	ORPHA:381
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hellp Syndrome	Generalized edema, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Pleu...	ORPHA:244242
Slc35A1-Cdg	Pneumonia, Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn...	ORPHA:238459
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Bleeding Disorder, Platelet-Type, 18	Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu...	OMIM:615888
Bleeding Disorder, Platelet-Type, 25	Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta...	OMIM:620486
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Emphysema, Abnormal fingernail morphology, Weight loss, Bronchiec...	ORPHA:1164
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ...	OMIM:187800
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Wild Type Attr Amyloidosis	Nephropathy, Impaired vibratory sensation, Abnormal pulmonary interstitial morphology, Renal insu...	ORPHA:330001
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res...	ORPHA:60033
Thrombocytopenia 9	Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombo...	OMIM:620478
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Bleeding Disorder, Platelet-Type, 21	Alopecia, Abnormal bleeding, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced...	OMIM:617443
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonis...	ORPHA:167
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy...	OMIM:614009
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Bleeding Disorder, Platelet-Type, 8	Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,...	OMIM:609821
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Premature gray...	OMIM:611584
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Ecz...	OMIM:242700
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Failure to thrive, Reduced natura...	OMIM:616050
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Kerion Celsi	Alopecia, Lymphadenopathy	ORPHA:499
Hypophosphatasia	Anemia, Failure to thrive in infancy, Emphysema, Seizure	ORPHA:436
Systemic Capillary Leak Syndrome	Oliguria, Leukocytosis, Renal insufficiency, Pleural effusion, Pulmonary edema, Abnormal renal tu...	ORPHA:188
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Diaphragmatic paralysis, Abnormal lung morphology, Pulmonary sequestratio...	ORPHA:70589
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Ectopia lentis, Emphysema, Recurrent bronchitis, Chronic sinusiti...	OMIM:604571
Birt-Hogg-Dubé Syndrome	Emphysema, Abnormality of retinal pigmentation, Pneumothorax, Renal cell carcinoma, Pulmonary seq...	ORPHA:122
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Vertigo,...	ORPHA:3318
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Abnormal pulmonary int...	OMIM:612387
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Spasticity, Hypopigmentation of the skin, Abnormal optic nerve morphology, Seizure...	ORPHA:33445
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation	OMIM:601706
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Promi...	ORPHA:79329
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Lymphopenia, Nail dystrophy, Thrombocytopenia, Anemia, Pulm...	OMIM:620365
Common Variable Immunodeficiency	Pneumonia, Chronic otitis media, Emphysema, Lymphopenia, Failure to thrive in infancy, Decreased ...	ORPHA:1572
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Microcytic anemia, Ascites, Tall stature, Abnormality of the pulmona...	ORPHA:90308
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Bronchiectasis, Splenomegaly, Chronic bronchitis	OMIM:613490
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Mixed Connective Tissue Disease	Nephropathy, Xerostomia, Purpura, Gastrointestinal hemorrhage, Alopecia, Myositis, Arthritis, Hem...	ORPHA:809
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Alpha-Heavy Chain Disease	Alopecia, Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Von Willebrand Disease, Type 3	Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge...	OMIM:277480
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Japanese Encephalitis	Pill-rolling tremor, Status epilepticus, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of ext...	ORPHA:79139
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen...	ORPHA:79127
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Bleeding Disorder, Platelet-Type, 15	Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega...	OMIM:615193
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Inflammation of the large intestine, Decreased proportion of CD8-...	OMIM:301000
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei...	OMIM:618913
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Obesity, Ataxia, ...	ORPHA:411515
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Decreased body weight, Hematuria, Pulmonary edema, Glomerulonephritis, Tu...	ORPHA:340
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Vestibular hypofunction, Astigmatism, Sensorineural hearing impa...	ORPHA:231183
Hemophagocytic Lymphohistiocytosis, Familial, 2	Generalized edema, Hemophagocytosis, Failure to thrive, Seizure, Hemiplegia, Hepatosplenomegaly, ...	OMIM:603553
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Seizure, Retinopa...	ORPHA:79476
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Edema, Atelectasis	OMIM:267450
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Atonic seizure, Seizure, Focal impaired awareness seizure, Chorea, Abnor...	ORPHA:382
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t...	ORPHA:906
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Immunodeficiency 89 And Autoimmunity	Increased circulating IgG level, Increased circulating IgE level, Crohn's disease, Increased circ...	OMIM:619632
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Typical absence seizure, Limb myoclonus, High-frequency sensorine...	ORPHA:2590
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr...	OMIM:620632
Mucopolysaccharidosis, Type Iiib	Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomeg...	OMIM:252920
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating...	OMIM:613313
Usher Syndrome Type 1	Iris hypopigmentation, Cataract, Vestibular hypofunction, Sensorineural hearing impairment, Ataxi...	ORPHA:231169
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Increased circulating creatine kinase MM iso...	OMIM:613752
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Riboflavin Transporter Deficiency	Iris hypopigmentation, Abnormality of macular pigmentation, Seizure, Progressive hearing impairme...	ORPHA:97229
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia	OMIM:608404
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, ...	ORPHA:507
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Inflammation of the large intestine, Bronchiectasis, Dilatation of the renal pelvi...	OMIM:619708
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased C...	OMIM:607271
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Bruising susceptibility, Seizure, Reduced natural killer cell activity, Splenom...	ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Cocaine Intoxication	Involuntary movements, Acute kidney injury, Diffuse alveolar hemorrhage, Mydriasis, Seizure, Atyp...	ORPHA:90068
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop...	OMIM:603552
Ataxia-Telangiectasia	Spasticity, Abnormality of chromosome stability, Failure to thrive, Seizure, Premature graying of...	ORPHA:100
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Tetraparesis, Lymphopenia, Ataxia, Recurrent lower respiratory tract inf...	OMIM:613179
Lymphangioleiomyomatosis	Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Lym...	ORPHA:538
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal agenesis, Hearing impairment, Recurrent otitis media, Obesity, Stage 5 chron...	OMIM:615993
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia	ORPHA:86893
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire...	OMIM:139090
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p...	OMIM:601399
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ...	ORPHA:274
Fabry Disease	Nephropathy, Hearing impairment, Sensorineural hearing impairment, Hematuria, Nephrotic syndrome,...	ORPHA:324
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Seizure	OMIM:210050
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Microlissencephaly	Pneumonia, Bilateral tonic-clonic seizure with generalized onset, Hypertonia	ORPHA:1083
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
High Altitude Pulmonary Edema	Pulmonary edema, Vertigo, Leukocytosis	ORPHA:330012
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells, Stomatitis	OMIM:618307
Huntington Disease-Like 1	Involuntary movements, Abnormal head movements, Seizure, Incoordination, Chorea, Gait ataxia, Sim...	ORPHA:157941
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Sensorineural hearing impairment, Optic disc hypoplasia, Failure to thrive, Aspiration pneumonia	OMIM:609528
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Cho...	OMIM:181000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Febrile seizure (withi...	OMIM:266265
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuo...	OMIM:269920
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Ethylene Glycol Poisoning	Seizure, Myoclonus, Renal insufficiency, Renal tubular dysfunction, Hematuria, Pulmonary edema, G...	ORPHA:31826
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Von Willebrand Disease, Type 1	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ...	OMIM:193400
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ...	OMIM:607594
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Pleural effusion, Skin rash, Pulmonary edema, Increased inflammatory respons...	ORPHA:542323
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr...	OMIM:237800
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Elevated circulating carcinoembryonic antigen concentratio...	ORPHA:100083
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Recurrent respiratory infections, Abnormal lymphocyte morphology, O...	ORPHA:229717
Sarcoidosis	Abnormal pleura morphology, Weight loss, Abnormal nasal mucosa morphology, Erythema nodosum, Tubu...	ORPHA:797
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Abnormal helix morphology, Multiple cafe-au-lait spots, Prolon...	ORPHA:638
Wolfram Syndrome 2	Optic atrophy, Abnormal bleeding, Sensorineural hearing impairment, Neurogenic bladder, Optic neu...	OMIM:604928
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi...	ORPHA:79431
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	High-frequency hearing impairment, Atelectasis, Otitis media, Recurrent bronchitis, Chronic sinus...	OMIM:300455
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Sitosterolemia 1	Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol...	OMIM:210250
Activated Pi3K-Delta Syndrome	Pneumonia, Hearing impairment, Failure to thrive, Recurrent otitis media, Decreased circulating a...	ORPHA:397596
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Meno...	ORPHA:324636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl...	OMIM:601457
Immunodeficiency 48	Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for...	OMIM:241200
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemi...	OMIM:620321
Congenital Toxoplasmosis	Ascites, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytop...	ORPHA:858
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Seizure, Epileptic spasm, Myoclonus, Ataxia, Polyhydramnios, Recurrent aspiration pneumonia, Erra...	OMIM:619971
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal lymphocyte morphology...	ORPHA:2584
Alpha-1-Antitrypsin Deficiency	Hepatitis, Bronchitis, Emphysema, Nephrotic syndrome, Panniculitis, Bronchiectasis	ORPHA:60
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Scorpion Envenomation	Acute pancreatitis, Acute kidney injury, Mydriasis, Ketonuria, Glycosuria, Seizure, Hemifacial sp...	ORPHA:466677
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg...	OMIM:620010
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect	DECIPHER:39
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Seizure, Atelectasis, Recurrent respiratory infections, Chronic otitis media	OMIM:619466
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis	ORPHA:70578
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Ocular albinism, Hearing abnormality, Myoclonus, Microtia	ORPHA:1352
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Ellis Van Creveld Syndrome	Acute leukemia, Hydroureter, Failure to thrive, Emphysema, Abnormality of the ureter, Abnormal ha...	ORPHA:289
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i...	ORPHA:436159
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair	OMIM:269600
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Early balding, Spastic paraparesis, Frontal balding, Hand tremor, Recurrent respiratory infection...	ORPHA:3041
Ogden Syndrome	Low-set ears, Recurrent otitis media, Pulmonary edema, Torticollis, Polycystic kidney dysplasia, ...	OMIM:300855
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem...	OMIM:605735
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity	ORPHA:177910
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism	OMIM:300500
Hemochromatosis, Type 1	Increased circulating iron concentration, Alopecia, Cardiomyopathy, Increased circulating ferriti...	OMIM:235200
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Seizure, Increased circulating IgE level, Osteomyelitis, Pleural...	ORPHA:1163
Immunodeficiency 32B	Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomeg...	OMIM:226990
Tularemia	Pneumonia, Cutaneous abscess, Leukocytosis, Pleural effusion, Otitis media, Increased circulating...	ORPHA:3392
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o...	ORPHA:352731
Benign Paroxysmal Torticollis Of Infancy	Vertigo, Abnormal head movements, Torticollis, Ataxia	ORPHA:71518
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:618806
Quebec Platelet Disorder	Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi...	OMIM:601709
1P36 Deletion Syndrome	Abnormality of the spleen, Sensorineural hearing impairment, Generalized hirsutism, Abnormality o...	ORPHA:1606
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre...	OMIM:619220
Epilepsy With Eyelid Myoclonia	Abnormal head movements, Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:139431
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Obesity, Gait imb...	ORPHA:411511
Macs Syndrome	Alopecia, Bronchiectasis, Sparse eyebrow, Bruising susceptibility, Recurrent aphthous stomatitis,...	OMIM:613075
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren...	OMIM:616726
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue...	OMIM:203100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Low-set...	OMIM:614069
Immunodeficiency 61	Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased...	OMIM:300310
Atelis Syndrome 1	Cataract, Irregular hyperpigmentation, Eczematoid dermatitis, Decreased lymphocyte proliferation ...	OMIM:620184
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepa...	OMIM:618805
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic...	ORPHA:903
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Broad-based gait, Hypopigmentation of the skin, Optic atrophy...	ORPHA:72
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hyperaldosteronism, Hyperkinetic movements, ...	ORPHA:73224
Adult-Onset Foveomacular Vitelliform Dystrophy	Vitelliform-like macular lesions, Retinal nonattachment, Iris hypopigmentation, Choroideremia	ORPHA:99000
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Ocular Albinism With Late-Onset Sensorineural Deafness	Sensorineural hearing impairment, Ocular albinism	ORPHA:1000
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Meier-Gorlin Syndrome 4	Low-set ears, Failure to thrive, Emphysema, Breast hypoplasia, Microtia	OMIM:613804
Noonan Syndrome	Coarse hair, Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Bruising susceptib...	ORPHA:648
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Generalized hirsutism, Abnormality...	ORPHA:93476
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Hearing impairment, Aspiration pneumonia, Myoclonus, Rigidity, Small for gestation...	OMIM:619057
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the urinary system, Somatic sensory dysfunction, Aspiration pneumonia, Inability t...	ORPHA:90117
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Huntington Disease-Like 3	Spasticity, Broad-based gait, Abnormal head movements, Seizure, Extrapyramidal muscular rigidity,...	ORPHA:157946
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Ovarian Hyperstimulation Syndrome	Generalized edema, Ascites, Peripheral edema, Pleural effusion, Hirsutism, Pulmonary edema, Incre...	ORPHA:64739
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Gait imbalance, B...	ORPHA:98795
Blue Rubber Bleb Nevus	Microcytic anemia, Intestinal bleeding, Skin rash, Prolonged bleeding time	ORPHA:1059
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg...	OMIM:616828
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Obesity, Gait imb...	ORPHA:98794
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Seizure, Inability to walk, Obesity, Sensorineural hearing impairment, Lower li...	OMIM:616756
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr...	ORPHA:543
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism	ORPHA:370091
Immunodeficiency 62	Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c...	OMIM:618459
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino...	OMIM:617638
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100024
3-Methylglutaconic Aciduria, Type Viib	Cataract, Spasticity, Recurrent pneumonia, Abnormal bleeding, Seizure, Leukopenia, Myoclonus, Pol...	OMIM:616271
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Conductive hearing impairment, Seizure	ORPHA:85179
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis	OMIM:620357
Immunodeficiency 7	Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Lymphade...	OMIM:615387
Chorea, Childhood-Onset, With Psychomotor Retardation	Involuntary movements, Chorea, Abnormal head movements	OMIM:616939
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss, Bronchitis	ORPHA:930
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Simpson-Golabi-Behmel Syndrome, Type 2	Low-set ears, Recurrent upper respiratory tract infections, Obesity, Recurrent lower respiratory ...	OMIM:300209
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe...	ORPHA:59303
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem...	OMIM:607616
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hirsutism, Hepatic steatosis, Hypercholesterolemi...	OMIM:612526
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Vitiligo, Follicular hyperplas...	OMIM:619846
Riddle Syndrome	Weight loss, Ataxia, Poor hand-eye coordination, Otitis media, Recurrent sinusitis, Arthritis, De...	ORPHA:420741
Nocardiosis	Pneumonia, Keratitis, Lymphadenitis, Cutaneous abscess, Seizure, Emphysema, Osteomyelitis, Pleura...	ORPHA:31204
Cirrhotic Cardiomyopathy	Conjunctival icterus, Abnormal bleeding, Ascites, Peripheral edema, Pulmonary edema	ORPHA:57777
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia	OMIM:619013
Lujo Hemorrhagic Fever	Resting tremor, Lymphopenia, Excessive bleeding after a venipuncture, Periorbital edema, Cerebral...	ORPHA:319213
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Phenylketonuria	Fair hair, Self-mutilation, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disor...	OMIM:261600
Familial Isolated Restrictive Cardiomyopathy	Pulmonary edema, Recurrent respiratory infections, Peripheral edema	ORPHA:75249
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Loeys-Dietz Syndrome 4	Ectopia lentis, Bruising susceptibility, Emphysema, Tall stature, Eosinophilic infiltration of th...	OMIM:614816
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Recurrent upper respiratory tract infections, Hand tremor, Seizure, Recurrent otitis media, Incre...	ORPHA:589905
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Hyperpigmentation of the skin, Splenomegaly	ORPHA:75563
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Abnormal eating behav...	ORPHA:247585
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Pseudohypoparathyroidism Type 1A	Cataract, Involuntary movements, Band keratopathy, Elevated circulating parathyroid hormone level...	ORPHA:79443
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Low-set ears, Highly arched eyebrow, Spasticity, Ketonuria, Failure to thrive, Seizure, Generaliz...	OMIM:220111
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Spasticity, Small for gestational age, Seizure, Aspiration pneumonia, Oligohydramn...	OMIM:618253
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:98754
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Long eyelashes, Hyperprolinemia, Cardiomegaly, Hyperalaninemia, Hepatomegaly, Synophrys	OMIM:619064
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Muscular Hypertonia, Lethal	Pneumonia, Hypertonia	OMIM:254120
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Alopecia, Recurrent skin infections, Autoimmune hemolyti...	OMIM:616576
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent p...	OMIM:613177
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Failure ...	OMIM:603467
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Coarse hair, Hypertrophic cardiomyopathy, Long eyel...	OMIM:617303
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:98793
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Brittle hair, Curly hair, Jaundice, Hepatomega...	OMIM:222470
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Anasarca, Seizure, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Perica...	OMIM:261740
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Rigid Spine Syndrome	Pneumonia, Waddling gait	ORPHA:97244
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo...	OMIM:618892
Liver Disease, Severe Congenital	Dry hair, Recurrent otitis media, Pulmonary edema, Hypospadias, Poor fine motor coordination, Ami...	OMIM:619991
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Emphysema, Oligohydramnios, Bladder diverticulum, Overgrowt...	OMIM:219100
Factor V Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee...	OMIM:227400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:177904
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:600649
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Emphysema, Papillary renal cell carcinoma, Abnor...	ORPHA:363618
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:177901
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,...	ORPHA:2902
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Wyburn-Mason Syndrome	Retinal vascular malformation, Iris hypopigmentation, Gingival bleeding, Epistaxis, Hearing impai...	ORPHA:53719
Episodic Ataxia Type 4	Abnormal head movements, Incoordination, Vertigo, Ataxia, Frequent falls	ORPHA:79136
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Abnormality of chromosome stability, Methyl...	ORPHA:859
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Mohr-Tranebjaerg Syndrome	Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Abnormal vestibular f...	ORPHA:52368
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anasarca, Failure to thrive, Recurrent urinary tract infections, Ascites, Emphysema, Pancytopenia...	OMIM:613658
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Histiocytoid Cardiomyopathy	Optic atrophy, Failure to thrive, Seizure, Megalocornea, Hemiplegia, Congenital aphakia, Pulmonar...	ORPHA:137675
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, ...	OMIM:608776
Alpha-Mannosidosis, Adult Form	Pneumonia, Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Clumsiness, Corneal op...	ORPHA:309288
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Farber Disease	Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Paraparesis, Macular degeneration,...	ORPHA:333
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate...	OMIM:615234
Tonne-Kalscheuer Syndrome	Spasticity, Broad-based gait, Small nail, Fine hair, Tremor, Blue irides, Concave nail, Micropeni...	OMIM:300978
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to t...	ORPHA:911
Obesity And Hypopigmentation	Red hair	OMIM:620195
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Dilated cardiomyopathy, Ascites, Hepatosplenomegaly, Abnormal cardiomyocyte morp...	ORPHA:367
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Sensorineural hearing impairment,...	ORPHA:3214
Meier-Gorlin Syndrome 1	Low-set ears, Atresia of the external auditory canal, Hearing impairment, Failure to thrive, Emph...	OMIM:224690
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Focal myoclonic seizure, Progressive spastic paraplegia, Seizure, Difficulty walking,...	ORPHA:464282
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia, Ascites	OMIM:603278
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi...	OMIM:214900
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Immunodeficiency 23	Allergic rhinitis, Conductive hearing impairment, Somatic sensory dysfunction, Failure to thrive,...	OMIM:615816
Meier-Gorlin Syndrome 6	Conductive hearing impairment, Failure to thrive, Emphysema, Stenosis of the external auditory ca...	OMIM:616835
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Ascites, Lymphopenia, Intestinal lymphangie...	ORPHA:90362
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Abnormal eyebrow morphology, Abnormal antihelix mo...	ORPHA:85194
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Paraplegia, Pancytopenia, Pulmonary h...	ORPHA:79124
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Alopecia, Central heterochromia, Long eyelashes, Retinal degeneration, Lo...	OMIM:275400
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Elevated bronch...	OMIM:610978
Ataxia-Telangiectasia	Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor...	OMIM:208900
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Sparse hair	OMIM:613576
Primary Dystonia, Dyt13 Type	Involuntary movements, Postural tremor, Action tremor, Jerky head movements, Torticollis	ORPHA:98807
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Pigmentary retinopathy, Tip-toe gait, Seizure, Aspiration pneumonia, Inability to wal...	ORPHA:216866
Ogden Syndrome	Low-set ears, Shuffling gait, Abnormal head movements, Fine hair, Aplasia/Hypoplasia of the eyebr...	ORPHA:276432
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Aplasia/Hypoplasi...	ORPHA:2930
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of the lymphatic system, Biliary t...	ORPHA:1414
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Pigmentary retinopathy, Seizure, Aspiration pneumonia, Retinal degenerat...	ORPHA:79264
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Urinary incontinence, Macular degeneration, Tip-toe gait, Urinary bladder sph...	OMIM:604360
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio...	ORPHA:85414
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Sparse hair, Alopecia, Increased serum bile acid concentration, Cirrhosis, Decre...	OMIM:242150
Usher Syndrome Type 2	Iris hypopigmentation, Cataract, Sensorineural hearing impairment, Ataxia, Abnormality of the inn...	ORPHA:231178
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Low-set ears, Reduced natural killer cell count, Failure to thrive, Decreased circulat...	OMIM:242860
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Sea-blue histiocytosis, Splenomegaly, Hyperpigmentation of the skin...	ORPHA:158029
Anemia, Congenital Dyserythropoietic, Type Ib	Small nail, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production...	OMIM:615631
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Thick eyebrow, Elevated cir...	OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 4	Pulmonary edema, Pericardial effusion, Ascites	OMIM:115197
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Bruising susce...	OMIM:130050
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Mucopolysaccharidosis, Type Iiia	Coarse hair, Splenomegaly, Hirsutism, Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy,...	OMIM:252900
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Cervical lymphadenopathy, Hepatomegaly, Coombs-posi...	OMIM:614034
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly	ORPHA:391
Omenn Syndrome	Pneumonia, Thyroiditis, Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis...	ORPHA:39041
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Abnormal heart morphology, Alopecia, Hypopigmentation of hair	ORPHA:1067
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Lymphadenopathy, Hypopigmentation ...	ORPHA:2221
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Omenn Syndrome	Severe B lymphocytopenia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia,...	OMIM:603554
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, Psor...	ORPHA:221139
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ...	OMIM:243700
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral...	ORPHA:90349
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Abnormal head movements, F...	ORPHA:363558
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Bloom Syndrome	Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, Oligozoosp...	ORPHA:125
Tangier Disease	Hypertriglyceridemia, Splenomegaly, Nail dystrophy, Elevated circulating apolipoprotein A-II conc...	OMIM:205400
Noonan Syndrome 4	Low-set ears, Sparse eyebrow, High anterior hairline, Abnormal bleeding, Bruising susceptibility,...	OMIM:610733
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Spasticity, Hepatitis, Seizure, Pancytopenia, Chorea, Vitiligo...	ORPHA:1855
Primary Ciliary Dyskinesia	Nasal polyposis, Conductive hearing impairment, Hearing impairment, Polysplenia, Atelectasis, Rec...	ORPHA:244
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Proteus Syndrome	Low-set ears, Pulmonary cyst, Chorioretinal coloboma, Exostosis of the external auditory canal, G...	ORPHA:744
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia	OMIM:619170
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Hyperpigmentation of the skin, Lymphadenopathy, ...	OMIM:609981
Alg1-Cdg	Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology	ORPHA:79327
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre...	OMIM:193670
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating amyl...	OMIM:619750
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cataract, Recurrent pneumonia, Sparse hair, Alopecia, Hearing impairment, Coarse hair,...	OMIM:158310
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Nephrocalcinosis, Abnormality of the urinary system, Generalized myoclonic seizure,...	ORPHA:369837
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Unilateral renal agenesis, Spasticity, Optic atrophy, Decreased circulating IgG lev...	ORPHA:500150
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hypertrichosis, Splenomegaly, Hirsutism, Hyperactivity, Hepatomegaly, Asymmetric sep...	OMIM:252930
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Alopecia, Eczematoid dermatitis, Cutaneous abscess, Chron...	OMIM:618282
Koolen-De Vries Syndrome	Iris hypopigmentation, Cataract, Fair hair, Failure to thrive, Recurrent urinary tract infections...	OMIM:610443
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Impaire...	OMIM:608184
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh...	OMIM:251880
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Loss of ambulation, Pulmonary fibrosis, Frequent falls	ORPHA:254361
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat...	ORPHA:88618
Dyskeratosis Congenita, Autosomal Dominant 1	Sparse hair, Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular v...	OMIM:127550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Anorexia, Hepato...	ORPHA:79312
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis, Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign...	ORPHA:247815
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Abnormal hair morphology, Os...	ORPHA:2314
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrop...	ORPHA:3162
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sidero...	OMIM:617021
Congenital Syphilis	Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Nephrotic syndro...	ORPHA:499009
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Neonatal Marfan Syndrome	Low-set ears, Crumpled ear, Ectopia lentis, Megalocornea, Emphysema, Iridodonesis, Small for gest...	ORPHA:284979
Autosomal Agammaglobulinemia	Chronic otitis media, Failure to thrive, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia,...	ORPHA:33110
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit...	OMIM:618886
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Overweight, Tremor, Hyperkinetic movements, Gait disturbance, Bilateral tonic-clonic sei...	ORPHA:457240
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Organic aciduria, Failure to thrive, Aspiration pneumonia, Seizure, Renal tubular acidosis, Progr...	ORPHA:431361
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Cholestasis, Elevated circulating creatinine concentration, Ascites, Perimembran...	OMIM:608104
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy	OMIM:618347
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Gm1 Gangliosidosis	Low-set ears, Spasticity, Aspiration pneumonia, Cherry red spot of the macula, Hepatosplenomegaly...	ORPHA:354
Fragile X Syndrome	Folate-dependent fragile site at Xq28, Abnormal head movements, Seizure, Macrotia	OMIM:300624
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun...	ORPHA:276
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Aicardi-Goutieres Syndrome 7	Tetraparesis, Pancytopenia, Chilblains, Increased circulating antibody level, Weight loss, Tetrap...	OMIM:615846
Congenital Disorder Of Glycosylation, Type Ia	Rod-cone dystrophy, Ataxia, Nephrotic syndrome, Macrotia, Generalized-onset seizure, Dysmetria, N...	OMIM:212065
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Waardenburg Syndrome Type 3	Spastic paraplegia, Hearing impairment, White hair, Atelectasis, Thick eyebrow	ORPHA:896
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Hypertrophic cardiomyopathy, Decre...	OMIM:212140
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta...	ORPHA:824
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:618495
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa...	ORPHA:95430
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m...	OMIM:256550
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Congenital Enterovirus Infection	Hypoalbuminemia, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis,...	ORPHA:292
Laurence-Moon Syndrome	Cataract, Low-set, posteriorly rotated ears, Obesity, Renal insufficiency, Displacement of the ur...	ORPHA:2377
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased seru...	OMIM:619046
Congenital Factor Ii Deficiency	Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ...	ORPHA:325
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Ulcerative colitis, Panc...	OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Low-set ears, Spasticity, Rheumatoid arthritis, Hypermelanotic macule, Recurrent otiti...	OMIM:607944
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Abnormal cornea morphology, Conductive hearing impairment, Atelectasi...	OMIM:244400
Wolcott-Rallison Syndrome	Hypoalbuminemia, Ascites, Exocrine pancreatic insufficiency, Abnormality of the liver, Hyperbilir...	ORPHA:1667
Familial Dysautonomia	Optic atrophy, Impaired pain sensation, Seizure, Abnormal pleura morphology, Abnormal pupil morph...	ORPHA:1764
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice	ORPHA:75234
Q Fever	Pneumonia, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Cholecys...	ORPHA:781
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp...	OMIM:616433
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Seizure, Obesity, Oligohydramnios, Hyperpigm...	ORPHA:177907
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy, Elevated circulating C-r...	OMIM:607115
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Sotos Syndrome	Small cell lung carcinoma, Hearing impairment, Small nail, Tall stature, Abnormality of the kidne...	ORPHA:821
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t...	OMIM:619752
Alg6-Cdg	Hypoalbuminemia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver	ORPHA:79320
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Anemia, Iron deficiency anemia, Thrombocyt...	OMIM:226300
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Lymphangiectasis, Hepatomegaly	OMIM:602579
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Avian Influenza	Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, I...	ORPHA:454836
Eosinophilic Gastroenteritis	Hypoalbuminemia, Ascites, Leukocytosis, Anemia, Eosinophilia, Elevated circulating C-reactive pro...	ORPHA:2070
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Neutrophilia, Elevat...	ORPHA:54251
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Hearing impairment, Aspiration pneumonia, Urinary glycosaminoglyc...	ORPHA:581
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Aspiration pneumonia, Action tremor, Distal sensory impairment, Sensori...	ORPHA:99027
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Paresthesia	ORPHA:2357
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Ascites, Hepatosplenomegaly, Hemolytic ane...	OMIM:619487
Shigellosis	Pneumonia, Acute kidney injury, Uveitis, Microangiopathic hemolytic anemia, Ulcerative colitis, U...	ORPHA:810
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Bacterial Toxic-Shock Syndrome	Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, Ecchymosis, My...	ORPHA:36234
Autosomal Dominant Cutis Laxa	Low-set ears, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Emp...	ORPHA:90348
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nephropathy, Pneumonia, Macular edema, Gastrointestinal hemorrhage, Focal sens...	ORPHA:247691
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Decreased body weight, Increased body weight, Increased circulating IgA level, ...	ORPHA:2298
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Oculopharyngodistal Myopathy	Vocal cord paresis, Progressive sensorineural hearing impairment, Difficulty walking, Paraplegia,...	ORPHA:98897
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Inguinal lymphadenopathy, Cervical lymphad...	OMIM:620514
Roifman Syndrome	Prominent eyelashes, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosin...	OMIM:616651
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Acute Radiation Syndrome	Cataract, Hypopigmentation of the skin, Abnormal bleeding, Inflammatory abnormality of the skin, ...	ORPHA:454831
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Abnormality of the kidney, Osteomyelitis, Pl...	ORPHA:228119
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon...	ORPHA:723
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Cafe-au-lait ...	OMIM:618541
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Dentinogenesis Imperfecta	Bruising susceptibility, Prolonged bleeding time, Hearing impairment	ORPHA:49042
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Redu...	OMIM:266200
Bilateral Acute Depigmentation Of The Iris	Recurrent upper respiratory tract infections, Abnormal corneal endothelium morphology, Pigment de...	ORPHA:69736
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Hearing impairment, Seizure, E...	OMIM:245150
Marfan Syndrome	Cataract, Microspherophakia, Pulmonary artery dilatation, Ectopia lentis, Hypoplasia of the iris,...	OMIM:154700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Hearing impairment, Seizure, Aspiration pneumonia, Ascites, Postural tremor, Myoclonu...	OMIM:301072
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Sparse scalp hair, Periodontitis, Hematuria, Clonus, Proximal renal tubular acidosis...	ORPHA:534
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Eczemato...	ORPHA:83471
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent oti...	OMIM:615518
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
X-Linked Centronuclear Myopathy	Inability to walk, Recurrent respiratory infections, Pneumonia, Polyhydramnios	ORPHA:596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Mpi-Cdg	Hypoalbuminemia, Hepatomegaly, Portal hypertension, Hepatic fibrosis	ORPHA:79319
Adams-Oliver Syndrome 5	Dystrophic toenail, Hypersplenism, Absent toenail, Splenomegaly, Patent foramen ovale, Hypoplasti...	OMIM:616028
Viss Syndrome	Low-set ears, Increased circulating IgE level, Exostosis of the external auditory canal, Retinal ...	OMIM:619472
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Atelectasis, Pulmonary fibrosis, Seizure, Hep...	OMIM:618278
Al Amyloidosis	Hypoalbuminemia, Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Monoclonal light cha...	ORPHA:85443
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Inability to walk, Infantile spasms, Abnormal medullary pyramid morphology, Bilateral to...	ORPHA:79243
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time	OMIM:185050
Edinburgh Malformation Syndrome	Low-set ears, Failure to thrive, Seizure, Hirsutism, Generalized hirsutism, Low posterior hairlin...	ORPHA:1895
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatic steatosis, Hypopigmentation of ha...	ORPHA:70472
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, I...	ORPHA:829
Baralle-Macken Syndrome	Cataract, Spasticity, Inability to walk, Obesity, Hirsutism, Urinary incontinence, Cafe-au-lait s...	OMIM:619255
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis...	OMIM:614878
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Intestinal lymphangiectasia, Ventricular septal defect, Hirsutism, Thyroid lymph...	OMIM:235510
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T...	ORPHA:457077
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, ...	ORPHA:465508
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:603909
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial ...	OMIM:614702
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Wilson Disease	Bruising susceptibility, Kayser-Fleischer ring, Failure to thrive, Difficulty walking, Acute hepa...	ORPHA:905
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Alg12-Cdg	Small nail, Abnormal circulating IgG level, Sensorineural hearing impairment, Low posterior hairl...	ORPHA:79324
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, Dysmetria, Babinski ...	ORPHA:93952
Marfan Syndrome	Spontaneous pneumothorax, Pulmonary artery dilatation, Ectopia lentis, Disproportionate tall stat...	ORPHA:558
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentati...	ORPHA:1867
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Tako-Tsubo Cardiomyopathy	Pulmonary edema, Obesity, Seizure	ORPHA:66529
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Sensorineural hearing impairment, Lo...	OMIM:214100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Recurrent bronchitis, Recurren...	ORPHA:293978
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Hearing impairment, Recurrent urinary tract infections, Panhypo...	OMIM:307200
Osteogenesis Imperfecta, Type Xvi	Small for gestational age, Conductive hearing impairment, Bruising susceptibility, Hearing impair...	OMIM:616229
Cornelia De Lange Syndrome 1	Low-set ears, Sensorineural hearing impairment, Low posterior hairline, Ectopic kidney, Hypospadi...	OMIM:122470
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Agammaglobulinemia, X-Linked	Hearing impairment, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, R...	OMIM:300755
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Polyphagia, Hypopigmentation of the skin, Cholestasis	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Polyphagia, Hypopigmentation of the skin, Cholestasis	ORPHA:71526
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Leukocytosi...	OMIM:615895
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Lymphedema, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulat...	OMIM:300291
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Aggressive Systemic Mastocytosis	Ascites, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Increased proportion of C...	ORPHA:98850
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Decrease...	OMIM:615952
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Hyponatremia, Pancreatitis, Ly...	ORPHA:549
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Roifman Syndrome	Prominent eyelashes, Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	ORPHA:353298
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Decreased body weight, Retinal detachment, Cerebral edema, Spastic tetraparesis, Iris...	OMIM:620371
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Noonan Syndrome 13	Low-set ears, Highly arched eyebrow, Bruising susceptibility, Lymphedema, Multiple lentigines, Re...	OMIM:619087
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Abnormal renal morphology, Arthralgia/arthritis, Sinusitis,...	ORPHA:449280
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Broad-based gait, Crohn's disease, Agammaglobulinemia, Absent ci...	OMIM:619705
Leptin Deficiency Or Dysfunction	Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesity, Micropenis, Decreased...	OMIM:614962
Yellow Nail Syndrome	Nephropathy, Yellow nails, Toenail dysplasia, Lymphedema, Abnormal fingernail morphology, Fingern...	ORPHA:662
Progressive Hemifacial Atrophy	Heterochromia iridis, Irregular hyperpigmentation, Seizure	ORPHA:1214
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Increased circulating procalcitonin concen...	ORPHA:36238
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Absence Of The Pulmonary Artery	Recurrent pneumonia, Pulmonary edema, Recurrent respiratory infections, Bronchiectasis, Pedal ede...	ORPHA:980
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Chylomicron Retention Disease	Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia	OMIM:246700
Mirage Syndrome	Hypospadias, Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia,...	OMIM:617053
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype...	OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ...	OMIM:602347
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Organic aciduria, Eczematoid dermatitis, Seizure, Large earlobe, Long eyelashes, Obesity, Protrud...	OMIM:620191
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptoglobin level, ...	OMIM:300842
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Mulibrey Nanism	Pigmentary retinopathy, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial...	OMIM:253250
Pyruvate Dehydrogenase E2 Deficiency	Oculomotor apraxia, Choreoathetosis, Jerky head movements, Ataxia	OMIM:245348
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia	OMIM:619051
Tay-Sachs Disease	Hearing impairment, Aspiration pneumonia, Incoordination, Cherry red spot of the macula, Poor fin...	ORPHA:845
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Decreased body weight, Ataxia, Recurrent lower respiratory tract infections, Generali...	OMIM:619229
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Optic atrophy, Irregular hyperpigmentation, Conductive hearing impairmen...	ORPHA:2135
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Hypoplastic toenails, Truncus arteriosus, Ve...	OMIM:616589
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ...	ORPHA:486
Nail-Patella Syndrome	Thickened glomerular basement membrane, Toenail dysplasia, Hematuria, Abnormality of the kidney, ...	ORPHA:2614
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Hypertrichosis, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:505248
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis...	ORPHA:60032
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Recurrent otitis medi...	OMIM:620233
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Generalized edema, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Edema, Sei...	ORPHA:544482
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Subpleur...	ORPHA:2302
Felty Syndrome	Bone marrow hypocellularity, Irregular hyperpigmentation, Abnormal lymphocyte morphology, General...	ORPHA:47612
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce...	ORPHA:186
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Zygomycosis	Pustule, Retinal detachment, Acute infectious pneumonia, Neutropenia, Periorbital edema, Endocard...	ORPHA:73263
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic oti...	OMIM:618131
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease...	ORPHA:169154
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Chronic otit...	ORPHA:169090
Angelman Syndrome	Broad-based gait, Hypopigmentation of the skin, Fair hair, Seizure, Obesity, Clumsiness, Progress...	OMIM:105830
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect	OMIM:616730
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Recurrent pneumonia, Sparse lateral eyebrow, Seizure, Aspiration pneumonia, Speech ...	ORPHA:314655
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl...	OMIM:619468
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Seizure, Tetraplegia, Hypertonia, Cerebral edema, Spastic tetraplegia	OMIM:608033
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocy...	ORPHA:289390
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Ma...	OMIM:613070
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis, Sensorineural hearing impairment	OMIM:616460
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Obesity, Tremor...	OMIM:300055
Hoyeraal-Hreidarsson Syndrome	Ataxia, Bone marrow hypocellularity, Generalized hypopigmentation of hair, Failure to thrive, Pre...	ORPHA:3322
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Infantile Neuroaxonal Dystrophy	Ataxia, Optic atrophy, Spasticity, Seizure, Aspiration pneumonia, Abnormal pyramidal sign, Gait d...	ORPHA:35069
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Relapsing Polychondritis	Sensorineural hearing impairment, Hematuria, Scleritis, Inflammatory abnormality of the eye, Purp...	ORPHA:728
Smith-Magenis Syndrome	Pain insensitivity, Abnormality of the outer ear, Abnormality of the urinary system, Impaired pai...	OMIM:182290
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Ketonuria, Seizure, Aspiration pneumonia, Myoclonus, Lacticaciduria, Optic disc pallor	OMIM:619167
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Celiac Disease, Susceptibility To, 1	Ataxia, Alopecia, Failure to thrive, Eczematoid dermatitis, Seizure, Decreased circulating IgA le...	OMIM:212750
Gm1 Gangliosidosis Type 1	Low-set ears, Spasticity, Hearing impairment, Seizure, Aspiration pneumonia, Cherry red spot of t...	ORPHA:79255
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu...	ORPHA:79404
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Hepatosplenomegaly, Hepatomegaly, Monocytosis, Lymphadenopathy, Thrombocytopeni...	OMIM:619644
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hyperammonemia, Hepatic steatosis, Elevated circulating creatine kinase concentration, Cardiomega...	ORPHA:42
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Sensorineural hearing impairment, Tremor, Premature graying of hair	ORPHA:66633
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Alopecia of scalp, Splenomeg...	OMIM:602782
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Intellectual Developmental Disorder, Autosomal Recessive 38	Unsteady gait, Blue irides, Seizure, Febrile seizure (within the age range of 3 months to 6 years)	OMIM:615516
Chops Syndrome	Cataract, Optic atrophy, Coarse hair, Hearing impairment, Aspiration pneumonia, Horseshoe kidney,...	OMIM:616368
Listeriosis	Arteritis, Hearing impairment, Hemiparesis, Pustule, Ataxia, Endocarditis, Acute kidney injury, S...	ORPHA:533
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Hearing impairment, Eczematoid dermatitis, Corneal...	ORPHA:284160
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Horner Syndrome, Congenital	Heterochromia iridis, Paralysis	OMIM:143000
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Castleman Disease	Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Follicular hyperplasia, Anemia, Generali...	ORPHA:160
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Classic Phenylketonuria	Self-injurious behavior, Hypopigmentation of the skin, Attention deficit hyperactivity disorder, ...	ORPHA:79254
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Heterochromia iridis, Abn...	ORPHA:1390
22Q11.2 Deletion Syndrome	Low-set ears, Hypopigmented skin patches, Hearing impairment, Parkinsonism, Posterior embryotoxon...	ORPHA:567
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti...	OMIM:613807
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Self-injurious behavior, Sparse eyebrow, Patent foramen ovale, Aggressive behavior, Hyposegmentat...	OMIM:620075
Cantu Syndrome	Congenital hypertrophy of left ventricle, Long eyelashes, Curly eyelashes, Cardiomegaly, Bicuspid...	OMIM:239850
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Spasticity, Ketonuria, Dehydration, Seizure, Leukopenia, Thrombocytosi...	ORPHA:20
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Amyloidosis, Hereditary Systemic 2	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Senior-Loken Syndrome 9	Macular degeneration, Nephronophthisis, Obesity, Stage 5 chronic kidney disease, Chronic bronchit...	OMIM:616629
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Action tremor, Cone/cone-rod dystrophy, Optic disc pallor, Generalized aminoaciduria, Generalized...	ORPHA:404454
Ocular Motor Apraxia	Oculomotor apraxia, Jerky head movements, Nephronophthisis	OMIM:257550
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Dysphagia, Restlessness, Paroxysmal bu...	ORPHA:391428
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Waardenburg Syndrome, Type 3	Spastic paraplegia, Hypopigmented skin patches, Premature graying of hair, Partial albinism, Whit...	OMIM:148820
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615482
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Prolonged neonatal jaundice, Ly...	OMIM:257200
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Obesity, Rod-cone dystrophy, Polyhydramnios, Recurrent respiratory infections	OMIM:615633
Bloom Syndrome	Chromosome breakage, Recurrent upper respiratory tract infections, Abnormality of chromosome stab...	OMIM:210900
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Scler...	OMIM:607626
Coccidioidomycosis	Hearing impairment, Abnormality of the spleen, Morbilliform rash, Abnormality of the kidney, Eryt...	ORPHA:228123
Naxos Disease	Subungual hyperkeratosis, Dilated cardiomyopathy, Sparse eyebrow, Sparse body hair, Abnormal hear...	OMIM:601214
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Hypothyroidism, Congenital, Nongoitrous, 6	Broad-based gait, Increased body weight, Increased T3/T4 ratio, Increased body mass index, Anemia	OMIM:614450
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Chron...	OMIM:615505
Relapsing Fever	Epistaxis, Acute kidney injury, Abnormality of the urinary system, Abnormal bleeding, Leukopenia,...	ORPHA:91547
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Anemia...	ORPHA:67
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula...	OMIM:194380
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactiv...	ORPHA:1451
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymph...	ORPHA:83469
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Small nail, Failure to thrive, Seizure, La...	OMIM:614520
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Cataract, Pigmentary retinopathy, Abnormal helix morphology, Failure to thrive, Se...	OMIM:214110
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ...	OMIM:606003
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Lymphopenia, Pancytopenia, Underdeveloped tragus, Iris colo...	OMIM:620654
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a...	ORPHA:64280
Sialuria	Splenomegaly, Hirsutism, Generalized hirsutism, Low posterior hairline, Attention deficit hyperac...	OMIM:269921
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Oligohydramnios,...	OMIM:614437
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Rhabdoid Tumor	Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Large for gestational age, Nephroblastoma, Overgrowth, Enlarged kidney	OMIM:618272
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Increased circulating ferri...	ORPHA:77259
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple...	OMIM:615468
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Anomalous origin of one pulmonary artery fro...	ORPHA:3384
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Myeloproliferative disorder, ...	ORPHA:79456
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha...	ORPHA:64753
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Digeorge Syndrome	Low-set ears, Acne, Recurrent otitis media, Hemiparesis, Posterior embryotoxon, Abnormality of th...	OMIM:188400
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Hyperpigmentation of the skin, Hypertriglyceridemia	OMIM:617575
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Generalized non-motor (absence) seizure, Inability to walk, Seizure, Hypoventilation...	ORPHA:258
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Obesity, Blue irides, Red hair, Hypospadias	OMIM:614613
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Seizure, Horseshoe kidney, Nail dystrophy, Hirsutism, Spotty hypopigmentatio...	OMIM:300860
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec...	OMIM:615504
Squalene Synthase Deficiency	Low-set ears, Elevated urine mesaconic acid level, Seizure, Failure to thrive in infancy, Abnorma...	OMIM:618156
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Angioedema, Renal insufficiency, Interstitial pneumonitis, Skin rash, Infectious encep...	ORPHA:139402
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia	ORPHA:99931
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating...	ORPHA:14
Neuhauser Syndrome	Cupped ear, Seizure, Megalocornea, Hypoplasia of the iris, Large fleshy ears, Low anterior hairli...	OMIM:249310
Lissencephaly Due To Lis1 Mutation	Focal impaired awareness seizure, Seizure, Aspiration pneumonia, Infantile spasms, Atypical absen...	ORPHA:95232
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Carnitine Palmitoyltransferase I Deficiency	Hyperammonemia, Hepatic steatosis, Elevated circulating creatine kinase concentration, Cardiomega...	OMIM:255120
Fanconi Anemia, Complementation Group B	Low-set ears, Abnormality of chromosome stability, Aplastic anemia, Renal agenesis, Optic disc hy...	OMIM:300514
Laurence-Moon Syndrome	Spastic paraplegia, Pigmentary retinopathy, Obesity, Chorioretinal atrophy, Ataxia, Micropenis	OMIM:245800
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Small nail, Hepatosplenomegaly, Sens...	OMIM:614866
Ciliary Dyskinesia, Primary, 42	Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:618695
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron...	OMIM:613193
Kikuchi-Fujimoto Disease	Alopecia, Abnormal lymph node morphology, Anorexia, Cervical lymphadenopathy, Leukopenia, Splenom...	ORPHA:50918
Gaucher Disease, Type Ii	Spasticity, Bronchiolitis, Failure to thrive, Seizure, Splenomegaly, Rigidity, Oculomotor apraxia...	OMIM:230900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Cataract, Anterior lenticonus, Keratitis, Failure to thrive,...	ORPHA:1018
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Shwachman-Diamond Syndrome	Abnormality of the outer ear, Aplastic anemia, Hearing impairment, Pancytopenia, Impaired neutrop...	ORPHA:811
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Glandular hypospadias, Polyhydramnios, Penile hypospadias, Micropenis, Hypospadias	OMIM:300219
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Nail dysplasia, Abnormal lymphocyte count, Lymphadenop...	OMIM:612783
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C...	OMIM:612649
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Immunodeficiency 56	Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otitis media, Recurre...	OMIM:615207
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormali...	ORPHA:335
Niemann-Pick Disease Type C	Hearing impairment, Aspiration pneumonia, Speech apraxia, Hepatosplenomegaly, Abnormal pyramidal ...	ORPHA:646
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Multiple muscular ventricular septal defects, Pulmonic stenosis, Sparse hair, Hy...	OMIM:615508
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Alpha-Mannosidosis, Infantile Form	Pneumonia, Spastic paraplegia, Cataract, Highly arched eyebrow, Oligosacchariduria, Recurrent uri...	ORPHA:309282
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre...	OMIM:616005
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach...	OMIM:607765
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o...	OMIM:620367
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai...	OMIM:620032
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele...	OMIM:618048
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, D...	OMIM:606367
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Noonan Syndrome 8	Low-set ears, Failure to thrive, Eczematoid dermatitis, Large for gestational age, Pleural effusi...	OMIM:615355
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:235555
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Fine ha...	OMIM:222700
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re...	ORPHA:247353
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Good Syndrome	Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morphology, Thr...	ORPHA:169105
Hepatic Veno-Occlusive Disease	Ascites, Increased body weight, Renal insufficiency	ORPHA:890
Icf Syndrome	Low-set ears, Abnormality of chromosome stability, Recurrent respiratory infections, Lymphopenia,...	ORPHA:2268
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otitis media, Recurre...	OMIM:601495
Dermatosparaxis Ehlers-Danlos Syndrome	Esophagitis, Prolonged bleeding time	ORPHA:1901
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Seizure, Generalized-onset seizure, Decreased circulating IgA level, ...	ORPHA:457485
Timothy Syndrome	Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly	OMIM:601005
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis	OMIM:618042
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Weight loss, Recurrent sk...	OMIM:619381
Kawasaki Disease	Hypoalbuminemia, Abnormality of nail color, Double outlet right ventricle with subpulmonary ventr...	ORPHA:2331
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,...	OMIM:613808
Roifman-Chitayat Syndrome	Pneumonia, Optic atrophy, Arthritis, Ectopic kidney, Generalized myoclonic seizure	OMIM:613328
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Spasticity, Cupped ear, Seizure, Large fleshy ears, Large for gestational age, Vesi...	OMIM:614080
Lafora Disease	Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Foca...	ORPHA:501
Scrub Typhus	Myocarditis, Splenomegaly, Lymphadenopathy	ORPHA:83317
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Scimitar anomaly, Penoscrotal hypospadias, Partial ano...	OMIM:618280
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade...	ORPHA:31150
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,...	OMIM:620609
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Corneal perforation, Seizure, Intrarenal abscess, Resp...	ORPHA:68
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Hyperpigmentation of th...	OMIM:230800
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Ascit...	OMIM:306400
Macrocephaly/Autism Syndrome	Coarse hair, Recurrent otitis media, Speech apraxia, Lymphopenia, Penile freckling, Obesity, Sple...	OMIM:605309
Zellweger Syndrome	Cataract, Multicystic kidney dysplasia, Optic atrophy, Failure to thrive, Seizure, Sensorineural ...	ORPHA:912
Cog8-Cdg	Failure to thrive, Spontaneous hematomas, Seizure, Myoclonus, Prolonged prothrombin time, Ataxia	ORPHA:95428
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Lymphadenopathy, Neut...	OMIM:304790
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Absent hair, Congenital alopecia totalis, Absent toenail, Cardiomegaly, Absent ey...	ORPHA:158687
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:614868
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Stapes ankylosis, Se...	ORPHA:90646
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic otitis media, ...	OMIM:612650
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Nail dystrophy, Follicular hyperplasia, Anemia, Nailfold capillary tortu...	OMIM:615934
13Q12.3 Microdeletion Syndrome	Atopic dermatitis, Impaired pain sensation, Hearing impairment, Failure to thrive, Upper eyelid e...	ORPHA:412035
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Seizure, Obesity, Vesicoureteral reflux, Low anterior hai...	ORPHA:261222
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Decreased serum testoste...	ORPHA:66628
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Nijmegen Breakage Syndrome	Recurrent pneumonia, Progressive vitiligo, Retinal pigment epithelial mottling, Recurrent urinary...	OMIM:251260
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula...	OMIM:617713
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ...	OMIM:613027
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Hypopigmented skin patches, Hearing impairment, Seizure, Hepatos...	OMIM:609136
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ...	OMIM:610377
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ...	ORPHA:398124
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hepatic steatosis, Hyperammonemia, D...	OMIM:617093
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane...	OMIM:224120
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Ascites, Hepatosplenom...	ORPHA:171
Degcags Syndrome	Chronic kidney disease, Low-set ears, Hearing impairment, Premature graying of hair, Hepatospleno...	OMIM:619488
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic...	OMIM:614679
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Hypermelanotic macule, Generalized lymphaden...	ORPHA:33276
Glycogen Storage Disease Ii	Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula...	OMIM:232300
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea...	ORPHA:178320
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Absen...	OMIM:614935
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Decreased serum testoste...	ORPHA:179494
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Elevated circulating creatinine concentration, Hepatosplenomegaly...	ORPHA:85450
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin	ORPHA:90037
Ciliary Dyskinesia, Primary, 32	Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro...	OMIM:616481
Nijmegen Breakage Syndrome	Acute leukemia, Abnormality of chromosome stability, Recurrent pneumonia, Abnormal hair morpholog...	ORPHA:647
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Hypertrichosis, Abnormal heart valve morphology, Ventricular septal defect...	ORPHA:363705
Adrenocortical Carcinoma	Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo...	ORPHA:1501
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Premature...	OMIM:613989
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Peritonitis	ORPHA:656
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Palpable purpura, Inflammatory abnormality of the skin, Retina...	ORPHA:48435
Sandifer Syndrome	Abnormal head movements, Esophagitis, Hematemesis, Torticollis, Anemia	ORPHA:71272
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Polyphagia, Hyperbilirubinemia, Cholestasis	OMIM:609734
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Failure to thrive, Fasciitis, ...	ORPHA:39812
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Absent outer dynein arms	OMIM:614017
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Recurrent pneumonia, Seizure, Persistence of hemogl...	OMIM:619769
Wilson Disease	Hypouricemia, Hypoalbuminemia, Portal fibrosis, Ascites, Hemolytic anemia, Hyperbilirubinemia, Sp...	OMIM:277900
Poems Syndrome	Visceromegaly, Polycythemia, Hypertrichosis, Ascites, Leukonychia, Splenomegaly, Hyperpigmentatio...	ORPHA:2905
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Seizure, Hyperinsulinemia, Tremor, Increased body weight, Hyperinsulinemic hypoglycemia	ORPHA:276608
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,...	OMIM:608836
Neuroleptic Malignant Syndrome	Acute kidney injury, Aspiration pneumonia, Extrapyramidal muscular rigidity, Chorea, Leukocytosis...	ORPHA:94093
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Cupped ear, Horseshoe ki...	ORPHA:314588
Proteus-Like Syndrome	Cataract, Irregular hyperpigmentation, Bronchogenic cyst, Thymus hyperplasia, Abnormal pupil morp...	ORPHA:2969
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hypertrophic cardiomyopathy, Hyperalaninemia, Macrovesicular hepatic steatosis, ...	OMIM:618329
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respira...	OMIM:616037
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Curl...	ORPHA:1517
H Syndrome	Corneal arcus, Alopecia, Bronchiectasis, Hearing impairment, Hypertrichosis, Microcytic anemia, A...	ORPHA:168569
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronch...	OMIM:608647
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Bickerstaff Brainstem Encephalitis	Pneumonia, Mydriasis, Facial paralysis, Tetraparesis, Dysesthesia, Respiratory tract infection, B...	ORPHA:79138
Ciliary Dyskinesia, Primary, 38	Bronchiectasis, Conductive hearing impairment, Chronic sinusitis, Absent inner and outer dynein a...	OMIM:618063
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Seizure, Obesity, Myoclonus, Proteinuria, Episodic hemolytic anemia, Macular ...	ORPHA:251004
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Nail dystrophy, Increased T cell count, I...	ORPHA:98813
Beck-Fahrner Syndrome	Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect	OMIM:618798
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529808
Whipple Disease	Polydipsia, Anorexia, Generalized hyperpigmentation, Splenomegaly, Hyponatremia, Anemia, Myocardi...	ORPHA:3452
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Xerostomia, Failure to thrive, Seiz...	ORPHA:398079
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,...	OMIM:613812
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Jaundice, Conjugated hyperbiliru...	ORPHA:294
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ...	OMIM:620296
Refsum Disease, Classic	Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy	OMIM:266500
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho...	OMIM:208540
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Ureterocele, Sparse eyelashes, Duplicated collecting system, Sparse hair, Renal dyspl...	OMIM:129900
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Absen...	OMIM:615444
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Attention def...	OMIM:614294
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Thyroid Lymphoma	Dysphagia, Lymphadenopathy	ORPHA:97285
Severe Acute Respiratory Syndrome	Acute kidney injury, Acute infectious pneumonia	ORPHA:140896
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypertrichosis, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Ventricular sep...	OMIM:235255
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo...	ORPHA:231222
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormality of the spleen...	ORPHA:31202
Acquired Purpura Fulminans	Macular purpura, Skin rash, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, In...	ORPHA:49566
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Reticular pigmen...	ORPHA:1435
Ciliary Dyskinesia, Primary, 7	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis...	OMIM:611884
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Cryptococcosis	Pneumonia, Abnormality of the outer ear, Abnormal optic nerve morphology, Seizure, Osteomyelitis,...	ORPHA:1546
Short-Rib Thoracic Dysplasia 12	Low-set ears, Renal hypoplasia, Edema, Atelectasis, Ascites, Splenomegaly, Hypoplastic nipples, P...	OMIM:269860
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate b...	ORPHA:79396
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia, Hepat...	OMIM:617591
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Peric...	OMIM:618183
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Microcornea, Bruising susceptibility, Atelectasis, Seizure, Oligohydramnios, Peripa...	ORPHA:536467
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine...	ORPHA:228308
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly, ...	OMIM:608013
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Loss of ambulation, Pneumonia	OMIM:253700
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Cholestasis, Ascites, Hyperbilirubinemia, Microvesicular hep...	OMIM:617156
Knobloch Syndrome 1	Retinal detachment, Ataxia, Duplicated collecting system, Optic disc pallor, Peripapillary atroph...	OMIM:267750
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Splenomegaly, Hyperammonemia, Hepatic steatosis, Hepatome...	OMIM:618641
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Xerostomia, Failure to thrive, Seiz...	ORPHA:398069
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Abcd Syndrome	Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Polycythemia, Hearing impair...	OMIM:600501
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231214
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Hepatosplenomegaly, Pancytopeni...	OMIM:615688
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Insulinoma	Seizure, Fasting hyperinsulinemia, Hyperinsulinemia, Paresthesia, Hearing abnormality, Tremor, In...	ORPHA:97279
Acyl-Coa Dehydrogenase 9 Deficiency	Failure to thrive, Dicarboxylic aciduria, Cerebellar hemorrhage, Prolonged prothrombin time, Thro...	ORPHA:99901
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Polyhydramnios, Micropenis, Recurrent respiratory infections, Edema	ORPHA:98905
Kleefstra Syndrome	Highly arched eyebrow, Hearing impairment, Recurrent respiratory infections, Supernumerary nipple...	ORPHA:261494
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypertrichosis, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Splenomeg...	ORPHA:1655
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Low anterior hairline, Lymphadenopathy, Hepatomegaly	ORPHA:99812
Autoimmune Hepatitis	Viral hepatitis, Increased total bilirubin, Ascites, Vitiligo, Splenomegaly, Sclerosing cholangit...	ORPHA:2137
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Recurrent pneumonia, Seizure, Inability to walk, Obesity, Astigmatism, Hypoventila...	OMIM:618493
Bronchial Neuroendocrine Tumor	Pneumonia, Increased serum serotonin, Increased circulating cortisol level, Increased circulating...	ORPHA:97287
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Prader-Willi Syndrome	Impaired pain sensation, Edema, Class III obesity, Failure to thrive in infancy, Seizure, Obesity...	OMIM:176270
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, An...	ORPHA:100080
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Pigmentary retinopathy, Alopecia, Progressive sensorineural heari...	OMIM:203800
Acquired Von Willebrand Syndrome	Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib...	ORPHA:99147
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Hearing impairment, Otitis media, Sinusitis, Absent inner and outer dynein arms,...	OMIM:606763
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Failure to thrive in infancy, Corneal scarring, Frontal upsweep of hair, Ret...	OMIM:301220
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Seizure, Large for gestational age, Hyperinsulinemia, Tremor, Proteinuria, Increased ...	ORPHA:263455
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Addictive alcohol use, Lymphadenopathy, Neutropenia, Anor...	ORPHA:520
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Dysphagia, Lymphadenopathy	ORPHA:1332
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Prolonged prothrombin time	OMIM:617049
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Ventricular septa...	OMIM:614921
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hirsutism, Cardiomegaly, Low posterior hairline, Abnormal thymus morphology, Synophrys	ORPHA:2463
Sotos Syndrome	Low-set ears, Sparse eyebrow, High anterior hairline, Conductive hearing impairment, Small nail, ...	OMIM:117550
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly, Abnormality of the nail	ORPHA:349
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Seizure, Episodic ataxia, Oroticaciduria, Prolonged prothrombin time, Ataxia, ...	OMIM:311250
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chroni...	OMIM:617092
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Pediatric Systemic Lupus Erythematosus	Alopecia, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, T...	ORPHA:93552
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Failure to thrive, Eczematoid dermatitis, Subpleural interstitial thickenin...	ORPHA:79128
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Large fleshy ears, Urinary bladder wall hypertrophy, Hydrou...	ORPHA:280633
Anaplastic Thyroid Carcinoma	Dysphagia, Lymphadenopathy	ORPHA:142
Duane Retraction Syndrome	Hypopigmented skin patches, Chorioretinal coloboma, Hearing impairment, Sensorineural hearing imp...	ORPHA:233
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Chorioretinal coloboma, Uplifted earlobe, Duplicated collecting system, Sparse ...	OMIM:280000
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia	ORPHA:99772
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr...	OMIM:300257
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph...	ORPHA:324410
Cholera	Acute kidney injury, Seizure, Aspiration pneumonia, Decreased urine output, Hyperventilation, Abn...	ORPHA:173
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set ears, Failure to thrive, Recurrent respiratory infections, Hyperechogenic kidneys, Low-se...	ORPHA:397715
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Hypermelanotic macule, Mediastinal lympha...	ORPHA:379
Adiposis Dolorosa	Sparse pubic hair, Xerostomia, Bruising susceptibility, Seizure, Obesity, Paresthesia, Sparse axi...	ORPHA:36397
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Failure to thrive, Extramedullary hematopoiesis, Dark urine, Renal cyst, Pr...	ORPHA:79303
Down Syndrome	Keratoconus, Cataract, Conductive hearing impairment, Impaired pain sensation, Polycythemia, Seiz...	ORPHA:870
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Peritonitis, Abnormal myocardium morphology, Lymphadenopathy, Elevate...	ORPHA:32960
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ascites, Ventricular septal defect	OMIM:616897
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess	OMIM:610910
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Xerostomia, Ureterocele, Hearing impairment, Sparse eyelashes, Duplicated collecting system, Rena...	OMIM:604292
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets	OMIM:614473
Acute Liver Failure	Pain insensitivity, Acute kidney injury, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising...	ORPHA:90062
Bardet-Biedl Syndrome 1	Cataract, Hearing impairment, Hyperautofluorescent macular lesion, Gait imbalance, Attenuation of...	OMIM:209900
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections, Hearing impairment, Seizure, Splenomegal...	OMIM:253200
Budd-Chiari Syndrome	Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,...	ORPHA:90363
Combined Oxidative Phosphorylation Deficiency 25	Low-set ears, Failure to thrive, Aspiration pneumonia, Sensorineural hearing impairment, Intraven...	OMIM:616430
Porphyria, Congenital Erythropoietic	Alopecia, Hypopigmentation of the skin, Cholelithiasis, Hypertrichosis, Elevated circulating urop...	OMIM:263700
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Spasticity, Hypopigmented skin patches, Seizure, Premature graying of hair, Abnormal eyebrow morp...	ORPHA:163746
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Xerostomia, Hematuria, Neutropenia, Corneal erosion, Abnorm...	ORPHA:95455
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Chand Syndrome	Ataxia, Hydroureter, Atelectasis, Nail dysplasia, Curly hair	ORPHA:1401
Prader-Willi Syndrome	Hypopigmentation of the skin, Xerostomia, Failure to thrive, Decreased circulating gonadotropin c...	ORPHA:739
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat...	OMIM:617099
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Cataract, Failure to thrive, Progressive spastic paraplegia, Seizure, Epileptic spa...	OMIM:247200
Trisomy 8P	Nephrocalcinosis, Recurrent upper respiratory tract infections, Peripheral pulmonary artery steno...	ORPHA:264450
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent antihelix, Hearing impairment, Typical absence seizure, Obesity, Thick eyebrow, Hirsuti...	ORPHA:466950
Noonan Syndrome 9	Sparse eyebrow, Hydroureter, Prominent corneal nerve fibers, Prolonged prothrombin time, Curly hair	OMIM:616559
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci...	ORPHA:75565
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Congenital sensorineural hearing impairment, Decreased body weight, Genera...	OMIM:617306
Sialuria	Low-set ears, Seizure, Hepatosplenomegaly, Hyperkinetic movements, Prolonged prothrombin time	ORPHA:3166
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Splenomegaly, Hepatic steatosis, Portal hyperte...	ORPHA:567983
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Small for gestational age, Failure to thrive, Seizure, Myoclonus, Intraventricular...	OMIM:619055
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Dysphagia, Right ventricular hypertrophy, Elevated circulating creatine kinase conc...	ORPHA:268
Williams Syndrome	Spasticity, Megalocornea, Sensorineural hearing impairment, Posterior embryotoxon, Ataxia, Perior...	ORPHA:904
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Failure to thrive, Seizure, Abnormal circulating androgen level, Increased circulating...	ORPHA:90790
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Failure to...	OMIM:276700
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec...	ORPHA:100093
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Low-set ears, Recurrent pneumonia, Cupped ear, Optic disc coloboma, Sensorineural hearing impairm...	OMIM:300472
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Hearing impairment, Chorioretinal coloboma, Decreased body weight, ...	OMIM:619475
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Atelectasis, Hearing impairment, Difficulty walking, Inability to walk, Failu...	ORPHA:365
Neurofibromatosis Type 1	Hypopigmented skin patches, Chorioretinal coloboma, Hearing impairment, Tall stature, Ataxia, Leu...	ORPHA:636
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Failure to thrive, Dicarboxylic aciduria, Fasting hyperinsulinemia, Myogl...	ORPHA:71212
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Generalized non-motor (absence) seizure, Cherry red spot of the macula, Hypers...	ORPHA:77293
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hearing impairment, Aspiration pneumonia, Sensorineural hearing impairment, Abnormal toenail morp...	ORPHA:444077
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis, Seizure, Tremor	ORPHA:330021
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Hypercalcemia, Chronic noninfectious lymphadenopathy, Pancreatic islet ce...	ORPHA:97289
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Dysphagia, Normochromic anemia	OMIM:254900
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, An...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, An...	ORPHA:100082
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocytosis, Brittle ha...	OMIM:616084
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Microcornea, Hydroureter, Failure to thrive, Optic disc coloboma, Seizure,...	ORPHA:2995
Kabuki Syndrome 1	Low-set ears, Hearing impairment, Recurrent otitis media, Autoimmune thrombocytopenia, Macrotia, ...	OMIM:147920
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hyperacti...	OMIM:207800
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Ridged nail, Renal insufficiency, Sensorineural hearing impai...	OMIM:161200
Cystinosis, Nephropathic	Hematuria, Weight loss, Aminoaciduria, Generalized aminoaciduria, Hypopigmentation of the skin, F...	OMIM:219800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Obesity, Pericardial effusion, Overweight, Small...	ORPHA:26793
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib...	OMIM:619534
Mody	Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Obesity, Large for gestation...	ORPHA:552
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Abnormal bleeding, Angioid streaks of the fundus, Retinal peau d'orange, Prolonged pro...	OMIM:610842
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Functional ab...	ORPHA:391487
Hyperparathyroidism, Neonatal Severe	Polydipsia, Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia	OMIM:239200
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Hepa...	OMIM:620376
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Abnor...	ORPHA:158048
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypocholesterolemia, Ele...	OMIM:270400
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple...	ORPHA:565612
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Cataract, Nephrocalcinosis, Abnormality of the...	ORPHA:79500
Waldenström Macroglobulinemia	Normocytic anemia, Leukemia, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly, Abnormality o...	ORPHA:33226
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei...	ORPHA:29073
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le...	ORPHA:308552
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Bruising susceptibility, Increased circulating cortisol level, Increased urinary cortis...	ORPHA:189427
Classical Ehlers-Danlos Syndrome	Abnormal cornea morphology, Bruising susceptibility, Blepharochalasis, Joint swelling, Ecchymosis...	ORPHA:287
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Low-set ears, Hematochezia, Peripheral pulmonary artery stenosis, Failure to thrive, Seizure, Rec...	OMIM:619575
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:1791
Marshall-Smith Syndrome	Low-set ears, Highly arched eyebrow, Recurrent upper respiratory tract infections, Bilateral cond...	OMIM:602535
Monosomy 13Q34	Hematochezia, Epistaxis, Horizontal eyebrow, Abnormal earlobe morphology, Obesity, Fetal pyelecta...	ORPHA:96168
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Hearin...	OMIM:274300
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Sparse eyebrow, Hypopigmentation of the skin, Hypertrophic c...	OMIM:252500
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creat...	OMIM:610717
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Abnormal heart morphology, Atrial septal defect, Anemia, Refractory anemia	ORPHA:79076
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin conce...	OMIM:620306
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Brittle Cornea Syndrome 1	Red hair, Mitral valve prolapse	OMIM:229200
Hereditary Sensory And Autonomic Neuropathy Type 4	Hyperesthesia, Pain insensitivity, Chronic kidney disease, Aplasia of the sweat glands, Septic ar...	ORPHA:642
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Prominent eyelashes, Hearing impairment, Small nail...	ORPHA:1465
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Joubert Syndrome 8	Pigmentary retinopathy, Obesity, Oculomotor apraxia, Hypertonia, Ataxia, Hyperventilation, Optic ...	OMIM:612291
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Hypertrichosis, Microcytic anemia, Hypertriglyceridemia, Splenomegaly,...	OMIM:256040
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the eyebrow, Brushfield spots, Hypos...	ORPHA:1784
Koolen-De Vries Syndrome	Overfriendliness, Bicuspid aortic valve, Abnormal cardiac septum morphology, Abnormality of hair ...	ORPHA:96169
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s...	OMIM:615067
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Involuntary movements, High anterior hairline, Bilateral tonic-clonic seizure o...	ORPHA:438213
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Small nail, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Absent earlobe, Hyp...	OMIM:264090
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Brittle Cornea Syndrome	Conductive hearing impairment, Bruising susceptibility, Corneal scarring, Abnormality of hair pig...	ORPHA:90354
Hypermethioninemia Due To Adenosine Kinase Deficiency	Seizure, Failure to thrive, Prolonged prothrombin time, Sensorineural hearing impairment	OMIM:614300
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Optic atrophy, Elevated circulating parathyroid hormone level, Hearing...	OMIM:101800
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Hyperpigmentation of the skin, Lymphadenopathy, Neutrope...	ORPHA:293173
Waardenburg Syndrome, Type 1	Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Congenital sensorine...	OMIM:193500
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent...	OMIM:306900
Yellow Fever	Acute kidney injury, Abnormal bleeding, Anuria, Seizure, Leukocytosis, Renal insufficiency, Exces...	ORPHA:99829
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Highly arched eyebrow, Inappropriate laughter, Cardiomegaly	OMIM:618143
Fucosidosis	Thick eyebrow, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:230000
Hennekam Syndrome	Ascites, Lymphopenia, Splenomegaly, Hypocalcemia, Sparse axillary hair, Lymphadenopathy, Pulmonar...	ORPHA:2136
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Incoordination, Recurrent otitis media, Sensorineural hear...	OMIM:194050
Blue Diaper Syndrome	Nephrocalcinosis, Elevated circulating thyroid-stimulating hormone concentration, Decreased circu...	ORPHA:94086
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia, Lympha...	ORPHA:667
Immunodeficiency 87 And Autoimmunity	Cervical lymphadenopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular can...	OMIM:619573
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Cataract, Abnormality of the urinary system, Conductive hearing impairment, Failure to...	ORPHA:353281
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Cushing Disease	Acne, Sparse scalp hair, Bruising susceptibility, Increased circulating cortisol level, Increased...	ORPHA:96253
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Optic atrophy, Myoclonic seizure, Seizure, Generalized-onset seizure, Obesi...	OMIM:614231
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Difficulty walking, Inability to walk, Hypoventilation, Recurrent infectio...	ORPHA:70
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Bruising susceptibility, Increased circulating cortisol level, Primary hypercortisolism...	OMIM:615830
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Splenomegaly, Autoimmune hemoly...	OMIM:620565
Plague	Mydriasis, Inflammation of the large intestine, Abnormal bleeding, Hearing impairment, Lymphadeni...	ORPHA:707
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Hepatomegaly, Peritonitis, Elevated circulating amyloid A concentrati...	OMIM:249100
Xfe Progeroid Syndrome	Hypoalbuminemia, Ascites	OMIM:610965
Fryns Syndrome	Low-set ears, Abnormal helix morphology, Chylothorax, Renal agenesis, Polysplenia, Small nail, Se...	OMIM:229850
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Thick eyebrow, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, ...	OMIM:245600
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Hypopigmentation of the skin, Small nail	OMIM:251300
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Sensorineural hearing impairment, Abnormality of the kidney, Hypospadias, Aspiratio...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Sensorineural hearing impairment, Abnormality of the kidney, Hypospadias, Aspiratio...	ORPHA:353277
Chronic Graft Versus Host Disease	Alopecia, Xerostomia, Urinary bladder inflammation, Fasciitis, Ascites, Pancytopenia, Pleural eff...	ORPHA:99921
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Hirsutism, Polyphagia, Ventricular ...	OMIM:269700
Shwachman-Diamond Syndrome 2	Normocytic anemia, Low-set ears, Failure to thrive, Thrombocytopenia, Prolonged prothrombin time,...	OMIM:617941
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Seizure, Aspiration pneumonia, Difficulty walking, Astigmatism, Hypoventilation, Urinary incontin...	OMIM:619482
Meningioma	Hemifacial spasm, Difficulty walking, Hemiparesis, Ataxia, Urinary incontinence, Decreased circul...	ORPHA:2495
Carney Triad	Ascites, Lymphadenopathy, Anorexia, Anemia, Mediastinal lymphadenopathy	ORPHA:139411
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Neuroblastoma	Increased circulating ferritin concentration, Lymphadenopathy, Thrombocytopenia, Anemia, Abdomina...	ORPHA:635
Arboleda-Tham Syndrome	Low-set ears, Recurrent otitis media, Underdeveloped tragus, Chronic otitis media, Sparse medial ...	OMIM:616268
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Sensorineural hearing impairment, Iris co...	ORPHA:818
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic...	ORPHA:60025
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Dilated cardiomyopathy, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomega...	ORPHA:3260
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl...	ORPHA:3427
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia, Ascites	ORPHA:567546
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Iron deficiency ...	ORPHA:100075
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Hypophosphatemic rickets, Dilated cardiomyopathy	OMIM:208000
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia, Retinal coloboma	OMIM:258865
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Increased circulating cortisol level, Increased urinary cortisol level...	ORPHA:99889
Infantile Liver Failure Syndrome 2	Seizure, Prolonged prothrombin time	OMIM:616483
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Splenomegaly, Hepatic steatosis, Hirsutism, Polyphagia, Cirrhosis, Hypertriglycer...	OMIM:608594
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Renal tubular acidosis, Splenomegaly, Increased body weight, Myoglobinuria, Ab...	ORPHA:264580
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Immunodeficiency 31C	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Impaired lymphocyte tran...	OMIM:614162
Pmm2-Cdg	Aspiration pneumonia, Hyperinsulinemia, Impaired neutrophil chemotaxis, Elevated circulating grow...	ORPHA:79318
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Leukopenia, Erythroid hyperplasia, Abnormal ...	ORPHA:79277
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hyperpigmentation of the s...	ORPHA:2035
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Petechiae, Neutro...	ORPHA:2330
Bardet-Biedl Syndrome	Chronic kidney disease, Spasticity, Inflammation of the large intestine, Hearing impairment, Cone...	ORPHA:110
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Retinal coloboma, Macrotia, Bifid ureter, Tall stature, Transient neutropenia, L...	OMIM:617107
Sturge-Weber Syndrome	Optic atrophy, Seizure, Hearing abnormality, Abnormal choroid morphology, Heterochromia iridis, C...	ORPHA:3205
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Sparse hair, Sparse scalp hair, Aplasia of the sweat glands	OMIM:612132
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Alström Syndrome	Chronic kidney disease, Frontal balding, Incoordination, Decreased circulating T4 concentration, ...	ORPHA:64
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse...	OMIM:614748
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Acute pancreatitis, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, ...	ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Moderate albuminuria, Failure to thrive, Microcytic anemia, Recurrent otitis media,...	OMIM:619525
Monosomy 22Q13.3	Impaired pain sensation, Hearing impairment, Lymphedema, Seizure, Long eyelashes, Recurrent pyelo...	ORPHA:48652
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Renal tubular acidosis, Splenomegaly, Increased body weight, Myoglobinuria, Anemia	ORPHA:79240
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Giant cell hepatitis, Failure to thrive, Prolonged prothrombin time	OMIM:214950
Menkes Disease	Spasticity, Gastrointestinal hemorrhage, Spontaneous hematomas, Seizure, Osteomyelitis, Chorea, I...	ORPHA:565
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Beckwith-Wiedemann Syndrome	Nephropathy, Hearing impairment, Abnormal earlobe morphology, Tall stature, Polycythemia, Obesity...	ORPHA:116
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Hypertrichosis, Cardiomegaly, Abnormal cardiac septum morpholog...	ORPHA:97297
Down Syndrome	Conductive hearing impairment, Brushfield spots, Acute megakaryocytic leukemia, Pulmonary artery ...	OMIM:190685
Familial Mediterranean Fever	Ascites, Leukocytosis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Pericarditis	ORPHA:342
Cystic Fibrosis	Recurrent pneumonia, Nasal polyposis, Failure to thrive, Hepatosplenomegaly, Chronic sinusitis, H...	OMIM:219700
Cystic Fibrosis	Nasal polyposis, Decreased body mass index, Hearing impairment, Failure to thrive, Nephrolithiasi...	ORPHA:586
Neuroocular Syndrome 1	Low-set ears, Small nail, Hypoplasia of the fovea, Brittle hair, Lens coloboma, Brushfield spots,...	OMIM:619539
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Blepharitis, Hyphema, Multiple cafe-au-lait spots, Myeloprolifera...	ORPHA:158000
Fontaine Progeroid Syndrome	Low-set ears, Absent nipple, Conductive hearing impairment, Small nail, Coarse hair, Hypertrichos...	OMIM:612289
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Behçet Disease	Splenomegaly, Abnormal myocardium morphology, Lymphadenopathy, Pancreatitis, Anorexia, Endocardit...	ORPHA:117
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Geleophysic Dysplasia 3	Pneumonia, Polyhydramnios	OMIM:617809
Opitz Gbbb Syndrome	Low-set ears, Abnormality of the urinary system, Hearing impairment, Vesicoureteral reflux, Hydro...	ORPHA:2745
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia, Penile hypospadias	ORPHA:73230
Leptospirosis	Hepatitis, Lymphadenopathy, Thrombocytopenia, Anorexia, Hepatomegaly, Jaundice, Hyperproteinemia,...	ORPHA:509
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Tricuspid stenosis, Extrahepatic cholestasis, Pulmonic s...	ORPHA:100078
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Hypoplastic fingernail, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Alobar Holoprosencephaly	Spasticity, Failure to thrive, Seizure, Aspiration pneumonia, Inability to walk, Abnormal central...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Failure to thrive, Seizure, Aspiration pneumonia, Inability to walk, Abnormal central...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Failure to thrive, Seizure, Aspiration pneumonia, Inability to walk, Abnormal central...	ORPHA:93924
Semilobar Holoprosencephaly	Spasticity, Failure to thrive, Seizure, Aspiration pneumonia, Inability to walk, Abnormal central...	ORPHA:220386
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega...	ORPHA:51
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100079
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight, Eczematoid dermatitis	ORPHA:64745
Systemic Lupus Erythematosus	Alopecia, Leukopenia, Lymphadenopathy, Thrombocytopenia, Anorexia, Hemolytic anemia	ORPHA:536
Blau Syndrome	Abnormality of the liver, Splenomegaly, Hyperpigmentation of the skin, Lymphadenopathy, Anemia, P...	ORPHA:90340
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatoblastoma, Hepatomegaly, Enlarged kidney	OMIM:130650
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Retinoblastoma	Hypopyon, Hyphema, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of retin...	ORPHA:790
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Aspiration pneumonia, Weight loss, Polyhydramnios, Recurrent respiratory infec...	ORPHA:2020
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
African Trypanosomiasis	Alopecia, Hepatosplenomegaly, Splenomegaly, Aggressive behavior, Lymphadenopathy, Myocarditis, He...	ORPHA:3385
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Yunis-Varon Syndrome	Aplasia/Hypoplasia of the nails, Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Ventricular...	ORPHA:3472
Yunis-Varon Syndrome	Low-set ears, Aspiration pneumonia, Sensorineural hearing impairment, Sparse eyelashes, Severe fa...	OMIM:216340
Phace Syndrome	Retinal vascular malformation, Cataract, Seizure, Hemiplegia/hemiparesis, Heterochromia iridis, S...	ORPHA:42775
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Pedal edema	ORPHA:99103
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Eosinophilia, Lymphadenopathy, Cholangitis, Retroperitoneal fibrosis	ORPHA:449432
Igg4-Related Ophthalmic Disease	Eosinophilia, Pancreatitis, Lymphadenopathy, Elevated circulating C-reactive protein concentratio...	ORPHA:449563
Chikungunya	Cervical lymphadenopathy, Depigmentation/hyperpigmentation of skin, Lymphadenopathy	ORPHA:324625
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Hypophosphatemic rickets, Cardiomegaly, Pancreatic calcificatio...	ORPHA:51608
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Cardiomegaly, Onycholy...	OMIM:182250
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis	ORPHA:79078
Carney Complex	Bruising susceptibility, Spotty hyperpigmentation, Increased circulating cortisol level, Multiple...	ORPHA:1359

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

X-ray

Histopathology

Human diseases caused by Bloc1s6 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data