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Gene: Dtnbp1 MGI:2137586

Gene Summary

Name:

dystrobrevin binding protein 1

Synonyms:

sdy, Bloc1s8, 5430437B18Rik, dysbindin

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 iris pigmentation	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.87×10^-19
decreased lymphocyte cell number	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.10×10^-07
abnormal uterus morphology	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating glucose level	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.99×10^-05
abnormal coat/hair pigmentation	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.44×10^-19
increased fasting circulating glucose level	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.50×10^-06
decreased grip strength	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.10×10^-05
increased neutrophil cell number	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.07×10^-12
increased lymphocyte cell number	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.36×10^-05
preweaning lethality, incomplete penetrance	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating phosphate level	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.20×10^-05
increased leukocyte cell number	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.12×10^-08
abnormal retina morphology	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.10×10^-13

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Eye Morphology

Images Slit Lamp

4 Images

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X-ray

XRay Images Hind Leg and Hip

15 Images

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Combined SHIRPA and Dysmorphology

Images

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Eye Morphology

Images Ophthalmoscopy

10 Images

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Human diseases caused by Dtnbp1 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 Dtnbp1 (1 diseases)
Human diseases predicted to be associated with Dtnbp1 (1342 diseases)

The table below shows human diseases associated to Dtnbp1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 7		Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib...	OMIM:614076

The table below shows human diseases predicted to be associated to Dtnbp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocytopenia 7	Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:619130
Glanzmann Thrombasthenia 2	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D...	OMIM:619267
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired...	OMIM:273800
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate...	OMIM:618462
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa...	OMIM:619271
Platelet Signal Processing Defect	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel...	OMIM:173590
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormality of the kidney, Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impai...	OMIM:155100
Thrombocytopenia 9	Abnormal bleeding, Thrombocytopenia, Decreased circulating thrombopoietin concentration, Abnormal...	OMIM:620478
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb...	OMIM:124900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h...	ORPHA:231393
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,...	OMIM:187800
Bleeding Disorder, Platelet-Type, 25	Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi...	OMIM:620486
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ...	OMIM:614201
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Hypopigmentation of hair, Impaired platelet aggregation, Spontaneous, recurren...	OMIM:614072
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib...	OMIM:614076
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Hypopi...	OMIM:614171
Immunodeficiency 20	BCGitis, Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract i...	OMIM:615707
Bernard-Soulier Syndrome	Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno...	OMIM:231200
Bleeding Disorder, Platelet-Type, 18	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men...	OMIM:615888
Griscelli Syndrome, Type 1	Recurrent tonsillitis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmenta...	OMIM:214450
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Absent platelet dense granules, Impaired ADP-induced platelet aggr...	OMIM:614074
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity, Short attention span	DECIPHER:19
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding	OMIM:608404
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis...	OMIM:614009
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Hermansky-Pudlak Syndrome 11	Iris transillumination defect, Reduced platelet dense granules, Gingival bleeding, Impaired colla...	OMIM:619172
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity, Short attention span	OMIM:608443
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:617443
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b...	OMIM:609821
Glanzmann Thrombasthenia	Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi...	ORPHA:849
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:173420
Wiskott-Aldrich Syndrome 2	Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity	OMIM:614493
Von Willebrand Disease, Type 3	Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia...	OMIM:277480
Nephronophthisis	Abnormality of retinal pigmentation, Anemia, Renal insufficiency	ORPHA:655
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Spontaneous, recurrent epistax...	ORPHA:182050
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Gray Platelet Syndrome	Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu...	OMIM:139090
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa...	OMIM:153670
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Decreased circulating IgE, Decreased circulating IgG level, Recurrent p...	OMIM:300400
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P...	OMIM:601399
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time, Abnormal bleeding	OMIM:314560
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia	OMIM:606574
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Hypopigmentat...	OMIM:103500
Slc35A1-Cdg	Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc...	ORPHA:238459
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Schizophrenia 15	Hyperactivity	OMIM:613950
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Silver-gray hair, Melanin pigment aggregation in hair shafts, H...	OMIM:607624
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Quebec Platelet Disorder	Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni...	OMIM:601709
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Excessive bleeding from superficial cuts, Silver-gray hair, Impair...	OMIM:614077
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:188025
Bernard-Soulier Syndrome	Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele...	ORPHA:274
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Incr...	OMIM:300291
Hermansky-Pudlak Syndrome 6	Iris transillumination defect, Absent platelet dense granules, Urinary incontinence, Macular hypo...	OMIM:614075
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Retinal d...	OMIM:275400
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections	ORPHA:90023
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti...	OMIM:619165
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru...	OMIM:605735
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Thrombocytopenia, Anemia, Melanocytic nevus	ORPHA:3319
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista...	OMIM:193400
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Bleeding Disorder, Platelet-Type, 19	Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Thrombocytopenia, Epistaxis, Macro...	OMIM:616176
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding, Epistaxis, Hematochezi...	OMIM:203300
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Essential Thrombocythemia	Acute leukemia, Abnormal bleeding, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Sp...	ORPHA:3318
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria	OMIM:236130
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Hypoglycemia, Thrombocytopenia, Cataract	ORPHA:67048
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia	ORPHA:2134
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi...	OMIM:203200
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Neutropenia, Reduced natural killer cell count, Generalized hypop...	OMIM:608233
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Oculocutaneous Albinism Type 6	Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Abnormal iris pigmentation...	ORPHA:370097
Griscelli Syndrome Type 2	Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Hyperlipidem...	ORPHA:79477
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions	ORPHA:99000
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Oculocutaneous Albinism Type 1	Optic nerve misrouting, Iris transillumination defect, Abnormal morphology of the choroidal vascu...	ORPHA:352731
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Abnormal bleeding, Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Hyperlipidemia, Retinopathy, Iris hypopigmentation, Partia...	ORPHA:79476
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Preeclampsia/Eclampsia 1	Thrombocytopenia, Proteinuria	OMIM:189800
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent sinusitis, Recurrent pneumonia, Decreased circulating ...	OMIM:619281
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Gray Platelet Syndrome	Abnormal bleeding, Thrombocytopenia, Splenomegaly, Epistaxis, Bruising susceptibility, Abnormalit...	ORPHA:721
Storage Pool Platelet Disease	Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding, Acute leukemia	OMIM:185050
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Malaria	Retinopathy, Acute kidney injury, Thrombocytopenia, Anemia	ORPHA:673
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Abnormal op...	ORPHA:3226
Factor V Deficiency	Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P...	OMIM:227400
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Pulmona...	OMIM:603585
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi...	ORPHA:903
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge...	OMIM:137560
Wolfram Syndrome 2	Optic atrophy, Abnormal bleeding, Neurogenic bladder, Decreased circulating antibody level, Optic...	OMIM:604928
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Woolly Hair Nevus	Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Precocious pu...	ORPHA:79414
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia, Recurrent hypoglycemia	ORPHA:94086
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Pancytopenia, Decreased circulating antibody level, ...	ORPHA:859
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Hemophilia B	Cephalohematoma, Hematuria, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemor...	ORPHA:98879
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormal circulating calcium-phosphate regulating hormone concentration, Macular coloboma, Hematu...	ORPHA:2196
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Fanconi Anemia, Complementation Group G	Anemia, Multiple cafe-au-lait spots, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Abnormal circulating lipid concentration, ...	ORPHA:381
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Sitosterolemia 1	Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregati...	OMIM:210250
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ...	ORPHA:79435
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy, Neutro...	OMIM:266130
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio...	OMIM:615559
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis	OMIM:613554
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Thrombocytopenia	OMIM:613606
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,...	OMIM:616959
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s...	ORPHA:325
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Multiple cafe-au-lait spots	ORPHA:638
Bilateral Striopallidodentate Calcinosis	Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:1980
Oculocutaneous Albinism Type 2	Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp...	ORPHA:79432
Oculocutaneous Albinism Type 3	Blue irides, Optic nerve misrouting, Red hair, Hypopigmentation of the skin, Iris hypopigmentatio...	ORPHA:79433
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Roch-Leri Mesosomatous Lipomatosis	Purpura, Thrombocytopenia	ORPHA:529
Blue Rubber Bleb Nevus	Prolonged bleeding time, Microcytic anemia, Intestinal bleeding	ORPHA:1059
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopig...	ORPHA:177910
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Hyperpigmentation of the skin, Petechiae, Hypopigmenta...	ORPHA:158029
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior	ORPHA:208441
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Recurrent sinusitis, Abnormal natural killer cell physiolog...	OMIM:613101
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Thrombocytopenia, ...	ORPHA:3002
Acute Myelomonocytic Leukemia	Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia	ORPHA:517
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he...	OMIM:613679
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Le...	OMIM:615285
Refractory Anemia	Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi...	ORPHA:98826
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Cataract	OMIM:146200
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity	OMIM:608898
Phenylketonuria	Generalized hypopigmentation, Hyperphenylalaninemia, Cataract, Fair hair, Blue irides, Maternal h...	OMIM:261600
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce...	ORPHA:231401
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Hypopigmen...	OMIM:214500
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epitheliu...	ORPHA:1433
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Severe Epstein Barr virus infection, Recurrent pharyngitis, Decreased circu...	OMIM:308240
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Chronic kidney disease,...	ORPHA:3156
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Abnormal bleeding, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, ...	ORPHA:75564
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Absent axillary hair	OMIM:269600
Eosinophilia, Familial	Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia	OMIM:131400
Late-Onset Retinal Degeneration	Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina...	ORPHA:67042
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Thyrocerebrorenal Syndrome	Nephritis, Thrombocytopenia, Renal insufficiency	ORPHA:3327
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hypospadias, Cryptorchidism, Diabetes mellitus, Blue irides, Fair hair	OMIM:614613
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Acquired Partial Lipodystrophy	Lymphocytosis, Insulin resistance, Generalized hirsutism	ORPHA:79087
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling	OMIM:551500
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Hematuria, Impaired platelet adhesion, Oral cavity bleeding, Menorrh...	ORPHA:324636
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat...	ORPHA:36913
Methionine Malabsorption Syndrome	Blue irides, Positive ferric chloride test, White hair	OMIM:250900
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Reticulocytosis, Thrombocytopenia, Proteinuria, Microangiopathic ...	ORPHA:54057
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormal platelet function, Hypopigmentation of the skin, Epistaxi...	ORPHA:167
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Kenny-Caffey Syndrome, Type 2	Anemia, Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Development...	OMIM:127000
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thrombocy...	OMIM:598500
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hypogonadism, Hypocalcemic tetany, Cataract, Hyperphosphatemia	OMIM:612462
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p...	OMIM:251270
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Sparse hair, Retinal degeneration, Micropenis, Pigmentary retinopathy, Alopecia	ORPHA:3363
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto...	OMIM:616216
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Abnormal platelet function, Abnormal platelet morphology, Epi...	ORPHA:906
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Increased circulati...	ORPHA:448237
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Systemic Lupus Erythematosus 17	Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Alopecia	OMIM:301080
X-Linked Recessive Ocular Albinism	Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Abnormal pupil morphology, ...	ORPHA:54
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Thrombocytopenia, Anemia	ORPHA:858
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Linear Verrucous Nevus Syndrome	Aplasia/Hypoplasia of the fovea, Sparse scalp hair, Retinopathy, Hypophosphatemia, Cataract, Abno...	ORPHA:2611
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hematuria, Internal hemorrhage, Prolonged bleeding time, Microcytic ...	ORPHA:90308
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Eem Syndrome	Macular dystrophy, Sparse scalp hair, Absent eyebrow, Retinopathy, Sparse body hair, Abnormality ...	ORPHA:1897
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal ...	OMIM:607616
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Pseudohypoparathyroidism Type 1B	Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat...	ORPHA:94089
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot...	OMIM:612925
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Premature graying of hair, Macular dystrophy, Hypopigmentation of hair, Hypopigmen...	ORPHA:33445
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Oculocerebral Hypopigmentation Syndrome, Preus Type	Generalized hypopigmentation, White hair, Iris hypopigmentation, Cataract, Abnormality of neutrop...	ORPHA:2720
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Monocytosis, Thrombocytopenia, Anemia, Neutropenia	OMIM:620534
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Pseudohypoparathyroidism, Type Ia	Cataract, Hyperphosphatemia, Hypogonadism, Hypocalcemic tetany	OMIM:103580
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Hyperglycemia, Type II diabetes mellitus, Pigmentary retinopathy	OMIM:520000
Usher Syndrome Type 3	Cataract, Iris hypopigmentation, Astigmatism	ORPHA:231183
Hemochromatosis, Type 3	Anemia, Hyperpigmentation of the skin, Increased circulating iron concentration, Lymphopenia, Ele...	OMIM:604250
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for...	OMIM:148820
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Retinal degeneratio...	OMIM:239000
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ...	ORPHA:1390
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Abnormal testis...	ORPHA:100
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con...	ORPHA:94093
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir...	OMIM:611584
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp...	OMIM:262190
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot...	OMIM:612926
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc...	ORPHA:88
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot...	OMIM:612924
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Wiskott-Aldrich Syndrome	Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Epistaxis, Lymphopenia, ...	OMIM:301000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Anemia, Neutropenia, Thrombocytopenia, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79431
Riboflavin Transporter Deficiency	Abnormality of macular pigmentation, Iris hypopigmentation, Hypogonadism, Optic disc pallor	ORPHA:97229
Congenital Rubella Syndrome	Anemia, Abnormality of retinal pigmentation, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia o...	ORPHA:290
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Cryptorchidism, Micropenis	OMIM:241410
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Tonne-Kalscheuer Syndrome	Hypospadias, Small nail, Decreased testicular size, Micropenis, Concave nail, Fine hair, Cryptorc...	OMIM:300978
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Retinal calcification, Decreased testicular size, Papilledema, Dev...	ORPHA:93325
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Sanjad-Sakati Syndrome	Astigmatism, Hypoplasia of penis, Hypocalcemia, Corneal opacity, Hyperphosphatemia, Cryptorchidism	ORPHA:2323
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Autosomal Dominant Hypocalcemia	Optic atrophy, Irregular hyperpigmentation, Abnormality of the nail, Hypocalcemia, Abnormal finge...	ORPHA:428
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Relapsing Fever	Prolonged prothrombin time, Acute kidney injury, Abnormal bleeding, Anemia, Hematuria, Leukocytos...	ORPHA:91547
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I...	ORPHA:999
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hypogonadism, Melanocytic nevus, Hyperphosphatemia, Cryptorchidism, Blue irides	OMIM:101800
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Hyperglycemia, Optic disc pallor	OMIM:618970
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Hyperpigmentation of the skin, Bone marrow hypocellularity, Throm...	OMIM:619151
Tufted Angioma	Purpura, Anemia, Petechiae, Thrombocytopenia, Hypertrichosis	ORPHA:1063
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Fetal And Neonatal Alloimmune Thrombocytopenia	Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe...	ORPHA:853
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron ...	OMIM:603909
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Cone/cone-rod dystrophy, Sideroblastic anemia, Thrombocytopenia, Retinal degenerat...	OMIM:249270
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Cho...	OMIM:601706
Classic Phenylketonuria	Hypopigmentation of hair, Memory impairment, Depression, Hypopigmentation of the skin, Motor dete...	ORPHA:79254
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Hydro...	OMIM:222300
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Isovaleric Acidemia	Cerebellar hemorrhage, Pancytopenia, Hyperglycinuria, Bone marrow hypocellularity, Thrombocytopen...	OMIM:243500
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Waardenburg Syndrome, Type 1	Premature graying of hair, Aplasia of the vagina, Heterochromia iridis, Synophrys, White forelock...	OMIM:193500
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ...	OMIM:300367
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal refle...	OMIM:204100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Thrombocytopenia 2	Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel...	OMIM:188000
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Thrombocytopenia, Anemia, Renal insufficiency	ORPHA:2123
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,...	OMIM:258360
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair	ORPHA:1355
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Angioid streaks of the fundus, Conjunctival whitish salt-like deposits, Hypercalcemia...	OMIM:211900
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Retinal detachment, Low posterior hairline, Abnormal eyebrow morp...	ORPHA:85194
Albinism, Oculocutaneous, Type Ia	Blue irides, Astigmatism, Hypopigmentation of hair, White hair, Hypoplasia of the fovea, Albinism...	OMIM:203100
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Aplasia Cutis-Myopia Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation	ORPHA:1117
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Purpura, Leukopenia, Splenomegaly, Prolonged bleeding time, Nephropa...	ORPHA:809
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha...	ORPHA:3322
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Blue irides, External genital hypoplasia, Frontal balding, Cafe-au-lait spot, Decreased testicula...	ORPHA:3041
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Leber Congenital Amaurosis 1	Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreoninuria, Pigme...	OMIM:204000
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Aplastic anemia, Gastrointestinal hemorrhage, Nail dysplasia, Anemia, ...	OMIM:613990
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Edinburgh Malformation Syndrome	Hirsutism, Low posterior hairline, Synophrys, Generalized hirsutism, Brushfield spots	ORPHA:1895
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia, Hemolytic-uremic syndrome	OMIM:614727
Mgat2-Cdg	Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet ...	ORPHA:79329
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Heterochromia iridis,...	ORPHA:263479
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Dyskeratosis Congenita, Autosomal Dominant 2	Premature graying of hair, Aplastic anemia, Nail dysplasia, Nail dystrophy, Pancytopenia, White f...	OMIM:613989
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Elevated circulating long chain fatty acid concentra...	OMIM:214110
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Dyskeratosis Congenita, Autosomal Recessive 2	Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Reticulated skin pig...	OMIM:613987
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp...	OMIM:614172
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc pallor	OMIM:611490
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,...	ORPHA:3214
Thrombocytopenia 10	Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M...	OMIM:620484
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ...	OMIM:616329
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal vagina ...	ORPHA:3440
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ...	OMIM:618858
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Lymphangiectasia, Intestinal	Stillbirth, Neonatal hypoproteinemia, Abnormal hair morphology, Lymphopenia	OMIM:152800
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Anemia, Macrocytic anemia, Thrombocytopenia, Leukopenia, Renal insufficiency	ORPHA:27
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Anemia, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Hermansky-Pudlak Syndrome	Astigmatism, Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic ...	ORPHA:79430
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation, Iron deficiency anemia	OMIM:618372
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation, Splenomegaly	ORPHA:834
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop...	ORPHA:1067
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology	ORPHA:2786
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly	OMIM:610539
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613266
Acute Promyelocytic Leukemia	Abnormal bleeding, Purpura, Anemia, Hematuria, Pancytopenia, Petechiae, Gingival bleeding, Leukoc...	ORPHA:520
Atelis Syndrome 1	Irregular hyperpigmentation, Anemia, Cafe-au-lait spot, Thrombocytopenia, Leukopenia	OMIM:620184
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Hypoproteinemia, Chorioretinal coloboma, Lymphopenia	ORPHA:1116
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	OMIM:618116
Proteus-Like Syndrome	Irregular hyperpigmentation, Retinal detachment, Heterochromia iridis, Cataract, Splenomegaly, Th...	ORPHA:2969
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Immunodeficiency 52	Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph...	OMIM:617514
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Leukopenia, Abnormal circulating f...	ORPHA:2298
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Jeune Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Nephronophthisis, Nephropathy	ORPHA:474
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Diabetes Mellitus, Transient Neonatal, 3	Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ...	OMIM:610582
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia, Alopecia	OMIM:616576
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy	ORPHA:49827
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Babesiosis	Thrombocytopenia, Splenomegaly, Leukopenia, Renal insufficiency, Hemolytic anemia	ORPHA:108
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe...	OMIM:606176
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Uncombable hair, Sparse hair	ORPHA:1264
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Immunodeficiency 91 And Hyperinflammation	Hemolytic-uremic syndrome, Hemophagocytosis, Nephrotic syndrome, Neutrophilia, Thrombocytopenia, ...	OMIM:619644
Primary Myelofibrosis	Abnormal bleeding, Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoiesis, Leukoc...	ORPHA:824
Sjögren-Larsson Syndrome	Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera...	ORPHA:816
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Hypopigmentation of hair, Corneal opacity, Choroideremia, Iris hypopigmentation, Cataract...	ORPHA:2719
Systemic Lupus Erythematosus	Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, Lupus nephritis	OMIM:152700
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Nail dystrophy, Anemia, Thrombocytopenia, Lymphopenia	OMIM:620365
Noonan Syndrome 4	Abnormal bleeding, Ureteral duplication, High anterior hairline, Curly hair, Sparse eyebrow, Hydr...	OMIM:610733
Transaldolase Deficiency	Abnormality of the kidney, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Hyper...	OMIM:615986
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Low posterior hairline, Bone marrow hypocellularity, Leukopenia, Splenomegaly, N...	OMIM:617303
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Hyper...	OMIM:242900
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Retinitis Pigmentosa 51	Abnormality of the kidney, Bone spicule pigmentation of the retina, Macular degeneration, Attenua...	OMIM:613464
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Thrombocytopenia, Proteinuria, Chronic kidney dis...	ORPHA:275555
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Deafness-Hypogonadism Syndrome	Congenital stationary night blindness, Abnormal spermatogenesis, Heterochromia iridis, Hypergonad...	ORPHA:90646
Stt3B-Cdg	Optic atrophy, Thrombocytopenia, Micropenis	ORPHA:370924
Autoinflammation With Infantile Enterocolitis	Meningitis, Reduced natural killer cell activity	OMIM:616050
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tet...	ORPHA:79444
Gaucher Disease, Type I	Anemia, Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Thrombocytopenia, Splenomeg...	OMIM:230800
Specific Granule Deficiency 2	Nail dysplasia, Anemia, Hirsutism, Fragile nails, Thrombocytopenia, Absent neutrophil specific gr...	OMIM:617475
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Noonan Syndrome 13	Multiple lentigines, Broad eyebrow, Highly arched eyebrow, Low posterior hairline, Cafe-au-lait s...	OMIM:619087
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Fanconi Anemia, Complementation Group A	Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal renal morphology, Re...	OMIM:227650
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien...	ORPHA:99886
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-p...	ORPHA:328
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis	ORPHA:26137
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Acquired Purpura Fulminans	Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ...	ORPHA:49566
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Hemolytic-uremic syndrome, Schistocytosis, Moderate proteinuria, Long eyelashes, Thromboc...	OMIM:301110
Noonan Syndrome	Juvenile myelomonocytic leukemia, Abnormal bleeding, Abnormal hair quantity, Abnormal platelet fu...	ORPHA:648
Fanconi Anemia, Complementation Group E	Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Hyperpigmentation of the skin...	OMIM:600901
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Megalocornea, Hyp...	OMIM:249310
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hepatosplenomegaly, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Hyperechogenic ...	OMIM:613845
Neurocutaneous Melanocytosis	Renal hypoplasia/aplasia, Abnormality of retinal pigmentation, Generalized hirsutism, Chorioretin...	ORPHA:2481
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level	OMIM:618856
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Thrombocytopenia, Micropenis	OMIM:615597
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death, Neutropenia	OMIM:257100
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Leishmaniasis	Abnormal bleeding, Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophag...	ORPHA:507
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Macs Syndrome	Sparse eyebrow, Bruising susceptibility, Sparse hair, Urethral stenosis, Prolonged bleeding time,...	OMIM:613075
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Thr...	ORPHA:158057
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Posterior...	ORPHA:364055
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Impaired platelet aggrega...	OMIM:241200
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Aplastic anemia, Nail dystrophy, Anemia, Ridged nail, Increased mean c...	OMIM:127550
Bardet-Biedl Syndrome 3	Renal hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Zellweger Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Clitoral hypertrophy, Hypospadias, Corneal opac...	ORPHA:912
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Gingival bleeding, Prolonged ...	ORPHA:35909
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab...	ORPHA:35858
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Alopecia, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Throm...	OMIM:304790
Mody	Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Retinopathy...	ORPHA:552
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Frontofacionasal Dysplasia	Microcornea, Limbal dermoid, Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Cataract, Absen...	ORPHA:1791
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Hydronephrosis, Abnormality of ...	ORPHA:873
Stormorken Syndrome	Abnormal bleeding, Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thromboc...	OMIM:185070
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Vitiligo, Decreased proportio...	OMIM:619846
Alport Syndrome 1, X-Linked	Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Thr...	OMIM:301050
Prolidase Deficiency	Anemia, Increased circulating antibody level, Facial hirsutism, Petechiae, Low posterior hairline...	OMIM:170100
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Band keratopathy, Hypergonadotropic hypogonadism...	ORPHA:79443
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Nail dystrophy, Hyperpigmentation of the skin, Pancytopenia, Small nail, Sparse ...	OMIM:224230
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Hypospadias, Bifid scrotum, Brushfield spots, Anonychia, Aplasia/Hypo...	ORPHA:1784
Fetal Cytomegalovirus Syndrome	Optic atrophy, Anemia, Petechiae, Chorioretinitis, Retinal hemorrhage, Thrombocytopenia, Splenome...	ORPHA:294
Hermansky-Pudlak Syndrome 4	Absent platelet dense granules, Albinism, Hypoplasia of the fovea, Ocular albinism	OMIM:614073
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Heimler Syndrome 1	Macular dystrophy, Leukonychia, Retinal pigment epithelial mottling, Beau's lines	OMIM:234580
Boutonneuse Fever	Increased circulating IgG level, Petechiae, Increased circulating IgM level, Thrombocytopenia, Le...	ORPHA:83313
Cystinosis	Hypokalemia, Corneal opacity, Retinopathy, Hypophosphatemia, Type I diabetes mellitus	ORPHA:213
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen...	ORPHA:340
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Snakebite Envenomation	Acute kidney injury, Abnormal bleeding, Gingival bleeding, Ecchymosis, Thrombocytopenia, Epistaxi...	ORPHA:449285
Vici Syndrome	Optic atrophy, Renal tubular acidosis, Hypopigmentation of the skin, Decreased circulating IgG le...	ORPHA:1493
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia	OMIM:610333
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Prolonged prothrombin time, Abnormal bleeding, Retinal peau d'orange, Angioid streaks of the fund...	OMIM:610842
Immunodeficiency 95	Lymphopenia	OMIM:619773
Thrombocytopenia 3	Decreased mean platelet volume, Petechiae, Thrombocytopenia, Epistaxis	OMIM:273900
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino...	ORPHA:98754
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr...	OMIM:619802
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Laurence-Moon Syndrome	Chorioretinal atrophy, Micropenis, Pigmentary retinopathy	OMIM:245800
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo...	OMIM:613011
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Thrombocytopenia, Abnormal ren...	OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Purpura, Hemolytic-uremic syndrome, Anuria, Reticulocytosis, Thrombocytopeni...	OMIM:235400
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Ramon Syndrome	Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino...	ORPHA:98793
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:617441
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat...	OMIM:614866
Narp Syndrome	Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis...	ORPHA:644
Blue Rubber Bleb Nevus	Hypermelanotic macule, Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding	OMIM:112200
Joubert Syndrome 28	Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino...	ORPHA:177901
Portal Hypertension, Noncirrhotic, 2	Petechiae, Ecchymosis, Epistaxis, Thrombocytopenia, Splenomegaly	OMIM:619463
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Neutropenia, Small nail, Bone marrow hypocellularity, Thrombocytopenia, Aminoaciduria, Ke...	OMIM:614520
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Acute Radiation Syndrome	Abnormal bleeding, Hyperpigmentation of the skin, Hypopigmentation of the skin, Thrombocytopenia,...	ORPHA:454831
Immunodeficiency 76	B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia	OMIM:619164
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG level, Thrombocy...	OMIM:620603
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Cerebral hemorrhage, Proteinuria, Congenital thrombocy...	OMIM:618886
Donohue Syndrome	Nail dysplasia, Hypermelanotic macule, Hyperinsulinemia, Clitoral hypertrophy, Fasting hypoglycem...	OMIM:246200
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Renal cell carcinoma	ORPHA:122
Pediatric Systemic Lupus Erythematosus	Hematuria, Abnormality of the urinary system, Lymphopenia, Nephrotic syndrome, Nephritis, Thrombo...	ORPHA:93552
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Thrombocytopenia 1	Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating...	OMIM:313900
Hellp Syndrome	Prolonged prothrombin time, Acute kidney injury, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Increased circulating antibody level, Normochromic anemia, Dec...	ORPHA:91500
Immunodeficiency 32B	Anemia, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegal...	OMIM:226990
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Decreased specific anti-polysaccharide antibody level, Abnormal bleeding, Unilater...	OMIM:614576
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder, Retinal flecks, Yellow/white lesions of the retina, Pigmen...	ORPHA:100996
Schimke Immuno-Osseous Dysplasia	Multiple lentigines, Hypermelanotic macule, Anemia, Abnormal proportion of naive CD4 T cells, Min...	ORPHA:1830
Vici Syndrome	Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Elevated circulating cre...	OMIM:242840
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Premature graying of hair, Nail dystrophy, Pancytopenia, Reticular hyperpigmentation, Lymphopenia...	OMIM:619767
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Anemia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoa...	ORPHA:436271
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, A...	OMIM:145350
Aregenerative Anemia	Abnormal bleeding, Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cell...	ORPHA:101096
Obesity And Hypopigmentation	Hyperinsulinemia, Red hair	OMIM:620195
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Urinary incontinence, Recurrent urinary t...	OMIM:609033
Dengue Fever	Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Thrombocytopenia, Leukopeni...	ORPHA:99828
Fanconi Anemia, Complementation Group C	Anemia, Ectopic kidney, Duplicated collecting system, Hyperpigmentation of the skin, Pancytopenia...	OMIM:227645
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Juvenile Xanthogranuloma	Iritis, Myeloproliferative disorder, Multiple cafe-au-lait spots, Asymmetry of iris pigmentation,...	ORPHA:158000
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Absent pubic hair, Te...	ORPHA:99429
Sengers Syndrome	3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Optic atrophy, Glomerulopathy, Abnormality of retinal pigmentation, P...	ORPHA:2715
Thrombocytopenia 6	Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
Felty Syndrome	Irregular hyperpigmentation, Anemia, Recurrent urinary tract infections, Abnormal lymphocyte morp...	ORPHA:47612
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Thick hair, Long eyelashes, Nephrotic syndrome, Bone marr...	ORPHA:505248
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Hematuria, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Ery...	OMIM:617021
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Angelman Syndrome	Optic atrophy, Astigmatism, Precocious puberty in females, Keratoconus, Hypopigmentation of the s...	ORPHA:72
Reni Syndrome	Hypertriglyceridemia, Hyperpigmentation of the skin, Hypogonadism, Lymphopenia, Hypoalbuminemia, ...	OMIM:617575
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Red hair, Hypopigmentation of the skin	ORPHA:71526
Drug-Induced Lupus Erythematosus	Petechiae, Hematuria, Thrombocytopenia, Anemia	ORPHA:231111
Cinca Syndrome	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Papilledema, Hepatos...	OMIM:607115
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Hydronephrosis, Thrombocytopenia	OMIM:300048
Leukocyte Adhesion Deficiency	Abnormal bleeding, Nail dystrophy, Hemolytic-uremic syndrome, Acute myeloid leukemia, Hyperinsuli...	ORPHA:2968
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c	OMIM:609812
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Hypophosphate...	ORPHA:2088
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Anemia, Alopecia, Thrombocytopenia, Agammaglobulinemia, Neutropenia	ORPHA:47
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, Sideroblastic anemia, Hypochromic anemia, Microcytic anemia, Erythroid hyperplasia,...	OMIM:600462
Holocarboxylase Synthetase Deficiency	Organic aciduria, Thrombocytopenia, Alopecia	ORPHA:79242
Incontinentia Pigmenti	Nail dysplasia, Nail dystrophy, Ridged nail, Sparse hair, Fine hair, Optic atrophy, Breast hypopl...	OMIM:308300
Braddock-Carey Syndrome 1	Thrombocytopenia, Curly hair, Multicystic kidney dysplasia, Sparse hair	OMIM:619980
Bardet-Biedl Syndrome 6	Renal cyst, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy	OMIM:605231
Bardet-Biedl Syndrome 17	Polyuria, Bone spicule pigmentation of the retina, Renal cyst, Cone/cone-rod dystrophy, Retinal d...	OMIM:615994
Kasabach-Merritt Phenomenon	Prolonged prothrombin time, Purpura, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Leukop...	ORPHA:2330
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Abnormality of the subungual region, Gingival blee...	ORPHA:335
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Stage 5 chronic kidney disease, Retinal pigment epithelial mottling, Proteinuria	OMIM:219900
Isolated Agammaglobulinemia	Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia	ORPHA:229717
Joubert Syndrome 3	Nephronophthisis, Retinal dystrophy, Highly arched eyebrow, Stage 5 chronic kidney disease, Pigme...	OMIM:608629
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Congenital Muscular Dystrophy With Intellectual Disability	Micropenis, Pigmentary retinopathy	ORPHA:370968
Partial Androgen Insensitivity Syndrome	Abnormality of secondary sexual hair, Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermi...	ORPHA:90797
Fanconi Renotubular Syndrome 5	Glycosuria, Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Pearson Syndrome	Anemia, Hypokalemia, Pancytopenia, Hyperpigmentation of the skin, Hypocalcemia, Corneal stromal e...	ORPHA:699
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Abnormality of retinal pigmentation	ORPHA:3085
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Hematuria, Melena, Su...	ORPHA:99147
Hepatoportal Sclerosis	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Thrombocytope...	ORPHA:64743
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Thrombocytopenia, Leukopenia, Stage 5 chronic kidney disease, Methylmaloni...	OMIM:251000
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Fanconi Anemia, Complementation Group F	Anemia, Hyperpigmentation of the skin, Pelvic kidney, Vesicoureteral reflux, Microphallus, Cafe-a...	OMIM:603467
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathioninuria, Mega...	OMIM:277400
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Renal tubular acidosis, Nephrocalcinosis, Thrombocytopenia, Renal tubular atro...	OMIM:208085
Cystinosis, Nephropathic	Recurrent corneal erosions, Hypophosphatemic rickets, Male hypogonadism, Hypopigmentation of hair...	OMIM:219800
Propionic Acidemia	Cerebellar hemorrhage, Increased level of hippuric acid in urine, Anemia, Pancytopenia, Hyperglyc...	OMIM:606054
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
Beta-Thalassemia	Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia	ORPHA:848
Cole Disease	Abnormality of the nail, Abnormal blood phosphate concentration, Hyperglycemia, Abnormal hair mor...	OMIM:615522
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Beta-alaninuria, Elevated urinary 3-hydroxyisobutyric acid...	OMIM:614105
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Iris transillumination defect, Microcornea, Generalized hypopigmentation	OMIM:617306
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism	OMIM:300500
Familial Hemophagocytic Lymphohistiocytosis	Purpura, Anemia, Hemophagocytosis, Petechiae, Decreased circulating antibody level, Thrombocytope...	ORPHA:540
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Stage 5 chronic kidney diseas...	OMIM:268315
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Anemia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoa...	OMIM:220110
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop...	OMIM:618048
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s...	OMIM:254900
Bone Marrow Failure Syndrome 3	Aplastic anemia, Nail dystrophy, Anemia, Acute myeloid leukemia, Retinal dysplasia, Pancytopenia,...	OMIM:617052
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus	OMIM:616026
Multiple Sulfatase Deficiency	Optic atrophy, Mucopolysacchariduria, Abnormality of retinal pigmentation, Thick eyebrow, Splenom...	ORPHA:585
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Hypospadias, Elevated circulating long chain fatty acid concentration, Pigm...	OMIM:214100
Diffuse Alveolar Hemorrhage	Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria	ORPHA:90060
Prolidase Deficiency	Hirsutism, Recurrent cystitis, White forelock, Abnormal fingernail morphology, Abnormality of ret...	ORPHA:742
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Necrotizing Enterocolitis	Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Thrombocytopenia, Hyperglycemia, Neutro...	ORPHA:391673
Knobloch Syndrome 1	Iris transillumination defect, Alopecia of scalp, Retinal detachment, Band keratopathy, Chorioret...	OMIM:267750
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Smith-Kingsmore Syndrome	Cafe-au-lait spot, Decreased circulating IgA level, Thrombocytopenia, Curly hair	OMIM:616638
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Restlessnes...	ORPHA:100924
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Wyburn-Mason Syndrome	Iris hypopigmentation, Retinal vascular malformation	ORPHA:53719
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Congenital thrombocytopenia	OMIM:605432
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Factor X Deficiency	Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra...	OMIM:227600
Rabson-Mendenhall Syndrome	Premature graying of hair, Clitoral hypertrophy, Fasting hypoglycemia, Thick hair, Hypokalemia, L...	ORPHA:769
Refsum Disease	Nail dysplasia, Retinopathy, Abnormality of retinal pigmentation, Splenomegaly, Renal insufficiency	ORPHA:773
Fetal Gaucher Disease	Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage	ORPHA:85212
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Neutropenia	OMIM:150550
Cog4-Cdg	Thick hair, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Glycosuria, Hypophosphatemia	OMIM:308990
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leuk...	ORPHA:98850
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Neonatal Lupus Erythematosus	Aplastic anemia, Abnormal bleeding, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolyt...	ORPHA:398124
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:466650
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Brittle hair, Tiger tail banding, Bilateral cryptorchidism, Developmental c...	OMIM:616395
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Proximal tubulopathy, Polyuria, Pigmentary retinopathy	OMIM:560000
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Sturge-Weber Syndrome	Optic atrophy, Retinal detachment, Corneal dystrophy, Heterochromia iridis, Conjunctival telangie...	ORPHA:3205
Combined Oxidative Phosphorylation Deficiency 54	Retrobulbar optic neuritis, Hyperglycemia, Optic disc pallor, Hypergonadotropic hypogonadism	OMIM:619737
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia, Hyperbi...	OMIM:227810
Hereditary Folate Malabsorption	Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circulating ant...	ORPHA:90045
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Nail dysplasia, Nail dystrophy, Optic atrophy, Anemia, Retinal telangi...	OMIM:612199
Angelman Syndrome	Blue irides, Hypopigmentation of the skin, Fair hair	OMIM:105830
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Widow's peak	OMIM:266265
Porphyria, Congenital Erythropoietic	Loss of eyelashes, Red urine, Hyperpigmentation of the skin, Hypopigmentation of the skin, Absent...	OMIM:263700
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia	OMIM:604484
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Rift Valley Fever	Hematemesis, Abnormal bleeding, Anemia, Melena, Hematuria, Increased circulating IgG level, Gingi...	ORPHA:319251
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Astigmatism, Increased circulating beta-C-terminal telopeptide concentrati...	OMIM:248250
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Hyperbilirub...	ORPHA:1667
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Hyp...	OMIM:617053
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Homocystinuria, Thrombocytopenia, Methylmalonic aciduria, Neutropenia	OMIM:614857
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Broad eyebrow, Long eyelashes, Horizontal eyebrow, Increased mean platelet...	OMIM:620475
Holocarboxylase Synthetase Deficiency	Organic aciduria, Thrombocytopenia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcroton...	OMIM:253270
Greig Cephalopolysyndactyly Syndrome	Nail dysplasia, Hypospadias, Keratoconus, Hirsutism, Hyperglycemia, Cryptorchidism	OMIM:175700
Hermansky-Pudlak Syndrome 10	Ocular albinism, Albinism, Splenomegaly, Neutropenia	OMIM:617050
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Mogs-Cdg	Optic atrophy, Decreased circulating antibody level, Hirsutism, Long eyelashes, Decreased circula...	ORPHA:79330
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Central thinning of the outer nu...	OMIM:619649
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract, Cryptorchidism	ORPHA:284160
Fanconi Anemia, Complementation Group D2	Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Pelvic kidney, Reticulocytope...	OMIM:227646
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Hypophosphatemia, Splenomegaly, Hypochromic an...	ORPHA:289157
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:5
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematop...	OMIM:259710
Kearns-Sayre Syndrome	Sideroblastic anemia, Renal Fanconi syndrome, Pigmentary retinopathy, Renal tubular acidosis	OMIM:530000
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:608600
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Duplicated collecting system, Small nail, Optic nerve hypoplasia, Vesicoureteral ref...	OMIM:301056
Mulibrey Nanism	Nephroblastoma, Pigmentary retinopathy, Iris coloboma	OMIM:253250
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:619743
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, De...	OMIM:301078
Tafro Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Elevated vascular endot...	ORPHA:457077
Oculocutaneous Albinism Type 5	Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism	ORPHA:370091
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Immunodeficiency 22	Anemia, Decreased circulating IgE, Retinal vasculitis, Decreased circulating IgG level, Decreased...	OMIM:615758
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase...	OMIM:308230
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Optic atrophy, Glomerulopathy, Macular coloboma, Hemolytic-uremic syndrome, Abnormalit...	ORPHA:79282
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Cerebellar hemorrhage, Dicarboxylic aciduria, Thrombocytopenia	ORPHA:99901
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hyperpigmentation ...	ORPHA:465508
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ...	OMIM:603554
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Koolen-De Vries Syndrome	Abnormality of hair texture, Iris hypopigmentation, Cataract, Cryptorchidism, Fair hair	OMIM:610443
Tularemia	Anemia, Leukocytosis, Thrombocytopenia, Increased circulating antibody level	ORPHA:3392
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Hemophilia B	Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Hematuria, Melena, Petechia...	OMIM:306900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ...	OMIM:618986
Familial Dysautonomia	Optic atrophy, Corneal erosion, Corneal opacity, Heterochromia iridis, Hyponatremia, Abnormal pup...	ORPHA:1764
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Ambiguous genitalia, male, Neonatal hypoglycemia, Clitoral hypertrophy, Female exte...	ORPHA:168558
Retinoblastoma	Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero...	ORPHA:790
Retinitis Pigmentosa	Optic atrophy, Hyperinsulinemia, Bone spicule pigmentation of the retina, Attenuation of retinal ...	ORPHA:791
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Immunodeficiency 44	Lymphopenia	OMIM:616636
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time, Dicarboxylic aciduria, Myoglobinuria, Hyperinsulinemic hypoglycemia, ...	ORPHA:71212
Nail-Patella Syndrome	High anterior hairline, Toenail dysplasia, Abnormality of the nail, Antecubital pterygium, Primar...	ORPHA:2614
Squalene Synthase Deficiency	Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, Abnormality of...	OMIM:618156
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Ambiguous genitalia, male, Neonatal hypoglycemia, Clitoral hypertrophy, Female exte...	ORPHA:289548
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Leigh Syndrome	Optic atrophy, Hypertrichosis, Pigmentary retinopathy	OMIM:256000
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, T lymphocytopenia, Decreas...	OMIM:617237
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Rod-cone dystrophy, Thrombocytopenia	OMIM:617710
Infantile Nephropathic Cystinosis	Hypokalemia, Glycosuria, Corneal crystals, Hypophosphatemia, Abnormal blood ion concentration, Ab...	ORPHA:411629
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Asplenia, Nephrocalcinosis, Vitiligo, Alopecia universalis, Perifoveal ring of hy...	OMIM:240300
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Maternal Uniparental Disomy Of Chromosome 6	Rod-cone dystrophy, Thrombocytopenia, Increased serum testosterone level	ORPHA:96181
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega...	ORPHA:100026
Dyskeratosis Congenita	Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Ane...	ORPHA:1775
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy, Sparse hair	OMIM:268020
Noonan Syndrome 9	Prolonged prothrombin time, Sparse eyebrow, Hydroureter, Curly hair	OMIM:616559
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Abnormality of the kidney, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, R...	ORPHA:464321
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Micropenis, Pigmentary retinopathy	OMIM:613156
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Transverse vaginal septum, Rectovaginal fistula, Generalized hypopigmentation, Hy...	OMIM:129900
Mccune-Albright Syndrome	Pancytopenia, Abnormal testis morphology, Large cafe-au-lait macules with irregular margins, Prec...	ORPHA:562
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Increased circulating antibody level, Melena, Leu...	ORPHA:319218
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Transverse vaginal septum, Nail dystrophy, Facial hirsutism, Generalized hypopigmentation, Hypopl...	OMIM:604292
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Anemia, Enlarged kidney, Abnormal spleen morphology, Thro...	ORPHA:464329
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Pseudo-Torch Syndrome 1	Petechiae, Thrombocytopenia, Splenomegaly, Renal insufficiency	OMIM:251290
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, F...	ORPHA:2221
Mucopolysaccharidosis, Type Ii	Dermatan sulfate excretion in urine, Papilledema, Abnormality of retinal pigmentation, Hepatosple...	OMIM:309900
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Pseudo-Torch Syndrome 2	Petechiae, Thrombocytopenia, Cerebral hemorrhage, Abnormal renal corticomedullary differentiation	OMIM:617397
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Fanconi Renotubular Syndrome 1	Glycosuria, Hypophosphatemia, Hypokalemia	OMIM:134600
3-Methylglutaconic Aciduria, Type Viib	Prolonged prothrombin time, 3-Methylglutaconic aciduria, Abnormal bleeding, Thrombocytopenia, Leu...	OMIM:616271
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Brittle hair, Alopecia, Hyperlipidemia, Mottled pigmentation, Hyperglycemia, Sp...	OMIM:608612
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Optic atrophy, Nail dystrophy, Anemia, Acute myeloid leukemia, Hypospa...	OMIM:305000
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Anemia, Pancytopenia, Elevated urine 2-methylcitric...	OMIM:251100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Papilledema, Thrombocytopenia, Normochromic anemia	OMIM:618775
Beta-Ketothiolase Deficiency	Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Hypoglycemia, Thrombocytosis	ORPHA:134
Cohen Syndrome	Optic atrophy, Iris coloboma, Thick hair, Abnormal eyelash morphology, Long eyelashes, Abnormalit...	ORPHA:193
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Anemia, Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegal...	OMIM:603553
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Oroticaciduria, Thrombocytopenia, Splenomegaly, Leukopenia, Sparse hair...	OMIM:222700
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Unilateral renal agenesis, Pancytopenia, Vesicoureteral reflux, Retinal coloboma, Renal h...	OMIM:620654
Combined Immunodeficiency Due To Crac Channel Dysfunction	Thrombocytopenia, Splenomegaly, Hemolytic anemia, Hypoplasia of the iris	ORPHA:169090
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Low anterior hairline, Thrombocytopenia, Micropenis	OMIM:606593
Prader-Willi Syndrome Due To Translocation	External genital hypoplasia, Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate ir...	ORPHA:177907
Congenital Erythropoietic Porphyria	Abnormal bleeding, Loss of eyelashes, Increased urinary porphobilinogen, Hyperpigmentation of the...	ORPHA:79277
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Gaucher Disease Type 1	Abnormal bleeding, Anemia, Increased circulating antibody level, Hematuria, Pancytopenia, Gingiva...	ORPHA:77259
Micro Syndrome	Optic atrophy, Hypoplasia of penis, Retinal coloboma, Abnormality of retinal pigmentation, Genera...	ORPHA:2510
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Abnormal hair quantity, Corneal opacity, Multiple...	ORPHA:636
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Microcornea, Heterochromia iridis, Low posterior hairline, Retinoschisis, ...	ORPHA:2995
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, T lymphocytopenia	ORPHA:277
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia	OMIM:620443
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Leukocytosis, Increased circulating IgD level, Normocytic hypop...	OMIM:610377
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Progressive neurologic deterioration	ORPHA:70472
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Panhypogammaglobulinemia, Pancytopenia, Abnormal natural killer cell count, Urinary reten...	ORPHA:79124
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis	ORPHA:83601
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Optic disc hypoplasia, Aniridia, Microco...	ORPHA:233
Cohen Syndrome	Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Thick eyebrow, Le...	OMIM:216550
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly, Reduced ...	OMIM:618541
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Anemia, Hemophagocytosis, Leukopenia, Thrombocytopenia, Splenomegaly	OMIM:267700
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Cataract, Reactive hypoglycemia	ORPHA:469
Short Syndrome	Astigmatism, Megalocornea, Rieger anomaly, Hyperglycemia, Ovarian cyst, Cataract, Insulin resista...	OMIM:269880
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Abnormality of the nail, Hypocalcemia, Leu...	ORPHA:247353
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Heterochromia iridis, White forelock, Hepatosplenomegaly, White eyela...	OMIM:609136
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemic rickets, Hepatosplenomegaly, Hypopho...	OMIM:307800
Retinitis Pigmentosa 74	Abnormal renal morphology, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:616562
Sepsis In Premature Infants	Abnormal bleeding, Purpura, Anemia, Petechiae, Leukocytosis, Thrombocytopenia, Splenomegaly, Olig...	ORPHA:90051
Ataxia-Telangiectasia	Glucose intolerance, Abnormal hair morphology, Abnormal spermatogenesis, Hypoplasia of the thymus...	OMIM:208900
Alg8-Cdg	Retinopathy, Optic atrophy, Thrombocytopenia, Anemia	ORPHA:79325
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Multiple cafe-au-lait spots, Large cafe-au-la...	ORPHA:249
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation	ORPHA:2518
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Pigmentary retinopathy	ORPHA:3208
Congenital Enterovirus Infection	Abnormal bleeding, Anemia, Abnormal macrophage morphology, Leukocytosis, Thrombocytopenia, Leukop...	ORPHA:292
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Sparse eye...	OMIM:250250
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, Recurrent urinary tract inf...	OMIM:251260
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Mixed hypo- and hyperpigmentation of the skin, Myeloproliferative disorder, Abnorm...	ORPHA:79456
Neuroblastoma	Abnormal bleeding, Elevated urinary catecholamine level, Anemia, Elevated urinary vanillylmandeli...	ORPHA:635
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingern...	ORPHA:974
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Leukopenia, Di...	ORPHA:36238
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Transaldolase Deficiency	Anemia, Pancytopenia, Synophrys, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:606003
Hyperparathyroidism, Neonatal Severe	Calcinosis, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly	OMIM:239200
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Facial hirsutism, Abnormal vagina morphology, Hirsutism,...	ORPHA:247768
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Sim1-Related Prader-Willi-Like Syndrome	External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino...	ORPHA:398079
Enhanced S-Cone Syndrome	Retinoschisis, Vitreoretinopathy, Macular edema, Pigmentary retinopathy	OMIM:268100
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Hyperglycemia, Leukocytosis	ORPHA:90065
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia, Decreased circulating T4 concentration	OMIM:608104
Psoriasis 14, Pustular	Nail dystrophy, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Alopecia	ORPHA:93160
Takenouchi-Kosaki Syndrome	Optic atrophy, Unilateral renal agenesis, Hypospadias, Highly arched eyebrow, Synophrys, Increase...	OMIM:616737
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Hypokalemic Periodic Paralysis	Mildly elevated creatine kinase, Episodic hypokalemia, Postprandial hyperglycemia	ORPHA:681
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Methylmalonic aciduria, Ketonuria, Neutropenia	OMIM:251110
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia	ORPHA:86843
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia	OMIM:207731
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Thrombocytopenia	OMIM:611126
Werner Syndrome	Premature graying of hair, Renal neoplasm, Sparse scalp hair, White forelock, Abnormality of reti...	ORPHA:902
Fanconi Renotubular Syndrome 2	Glycosuria, Hypophosphatemia	OMIM:613388
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Thrombocytopenia...	OMIM:611209
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Genital ulcers, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lympho...	OMIM:602450
Neuroocular Syndrome	Small nail, Highly arched eyebrow, Brittle hair, Microcornea, Stellate iris, Remnants of the hyal...	OMIM:619539
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Anemia, Pancytopenia, Hemosiderinuria, Abnormal erythrocyte enzyme concentra...	ORPHA:447
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Pancytopenia, Cystathioninuria, Homocystinuria, Megaloblastic anemia, Thrombocytopenia, M...	OMIM:277380
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Glycosuria, Hyponatremia, Corneal crystals, Hypophosphat...	ORPHA:411634
Alg12-Cdg	Prolonged prothrombin time, Hypospadias, Partial absence of specific antibody response to Haemoph...	ORPHA:79324
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Fanconi Anemia, Complementation Group B	Aplastic anemia, Optic disc hypoplasia, Renal agenesis, Thrombocytopenia, Micropenis	OMIM:300514
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Lujo Hemorrhagic Fever	Purpura, Oliguria, Leukocytosis, Microscopic hematuria, Thrombocytopenia, Leukopenia, Subconjunct...	ORPHA:319213
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hyperuricemia, A...	OMIM:203800
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Extramedullary hematopoiesis, Anemia of inadequate production, L...	ORPHA:231222
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos...	ORPHA:911
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Thro...	OMIM:259720
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Aceruloplasminemia	Hypochromic microcytic anemia, Macular degeneration, Abnormality of retinal pigmentation, Retinal...	ORPHA:48818
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:259700
Wilson Disease	Anemia, Bruising susceptibility, Thrombocytopenia, Splenomegaly	ORPHA:905
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Azoospermia, Generalized hypopigmentation, Corneal opacity, Sparse scalp hai...	ORPHA:534
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Abnormal testis mor...	ORPHA:54251
Catastrophic Antiphospholipid Syndrome	Abnormality of the kidney, Retinal arterial occlusion, Thrombocytopenia, Coombs-positive hemolyti...	ORPHA:464343
Diamond-Blackfan Anemia 21	Anemia, Erythroid hypoplasia, Synophrys, Horizontal eyebrow, Thrombocytopenia, Coarse hair, Widow...	OMIM:620072
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Castleman Disease	Anemia, Hematuria, Ureteral obstruction, Thrombocytopenia, Decreased mean corpuscular volume, Ren...	ORPHA:160
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Good Syndrome	Anemia, Recurrent urinary tract infections, Abnormal leukocyte morphology, Decreased circulating ...	ORPHA:169105
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Neurogenic bladder, Rod-cone dystrophy, Abnormal erythrocyte morphology, Acanthocy...	ORPHA:96180
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con...	ORPHA:157215
Hereditary Chronic Pancreatitis	Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia	ORPHA:2089
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Syndromic Diarrhea	Trichorrhexis nodosa, Hypopigmentation of hair, Panhypogammaglobulinemia, Brittle hair, Generaliz...	ORPHA:84064
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Estrogen Resistance	Hyperinsulinemia, Breast aplasia, Impaired glucose tolerance, Polycystic ovaries, Glucose intoler...	OMIM:615363
Ovarian Dysgenesis 2	Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Recon Progeroid Syndrome	Anemia, Hyperconvex thumb nails, Hirsutism, Thrombocytopenia, Absent lower eyelashes	OMIM:620370
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Complex Regional Pain Syndrome	Abnormality of hair growth, Allodynia, Slow-growing nails	ORPHA:83452
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus, Absent pubic hair	OMIM:612964
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Anemia, Cryptorchidism, Sparse hair, Lymphopenia, Catar...	OMIM:616541
Avian Influenza	Acute kidney injury, Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:454836
Congenital Syphilis	Optic atrophy, Purpura, Anemia, Petechiae, Chorioretinitis, Nephrotic syndrome, Thrombocytopenia,...	ORPHA:499009
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hirsutism, Hyper...	OMIM:151660
Immunodeficiency 40	Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lymphocytopenia	OMIM:616433
Pearson Marrow-Pancreas Syndrome	Anemia, Refractory sideroblastic anemia, Pancytopenia, Hypercalciuria, Reticulocytopenia, Siderob...	OMIM:557000
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Anemia, Elevated circulating C-reactive protein concentration, Periungual erythem...	OMIM:615934
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu...	ORPHA:158061
Khan-Khan-Katsanis Syndrome	Trichiasis, Ureteral duplication, Anemia, Highly arched eyebrow, Vesicoureteral reflux, Renal cys...	OMIM:618460
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ...	OMIM:277450
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia, Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Se...	ORPHA:2237
Cornelia De Lange Syndrome 1	Optic atrophy, Ectopic kidney, Hypospadias, Curly eyelashes, Highly arched eyebrow, Abnormal rena...	OMIM:122470
Satoyoshi Syndrome	Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Abetalipoproteinemia	Prolonged prothrombin time, Abnormal bleeding, Anemia, Reticulocytosis, Abnormality of retinal pi...	ORPHA:14
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Nail dysplasia, Bruising susceptibility, Thrombocytopenia, Coarse hair	OMIM:612394
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Thrombocytopenia, Anemia	OMIM:614946
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Nail-Patella Syndrome	Microphakia, Ridged nail, Keratoconus, Microcornea, Cataract, Antecubital pterygium, Anonychia, C...	OMIM:161200
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Nephrocalcinosis, Thro...	OMIM:260400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Absent pubic hair, Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism...	OMIM:614841
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair p...	ORPHA:261250
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h...	OMIM:300908
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Reduced circulating prolactin concentration, Rod-cone dystrophy, Pigmentary re...	ORPHA:2235
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
Cholesteryl Ester Storage Disease	Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Leukopenia, Hepatosplenomegaly, H...	OMIM:278000
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Posterior uveitis, Depigmented fundus, Retinal hemorrhage,...	ORPHA:79098
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Anemia, Pancytopenia, Renal tubular acidosis, Abnormal retinal morphology, Retinal...	ORPHA:2785
21Q22.11Q22.12 Microdeletion Syndrome	Nail dystrophy, Periorbital hyperpigmentation, Anemia, Small nail, Hypoplastic nipples, Thrombocy...	ORPHA:261323
Cyclic Neutropenia	Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia	ORPHA:2686
Lowry-Wood Syndrome	Abnormality of nail color, Abnormality of retinal pigmentation	ORPHA:1824
Satoyoshi Syndrome	Mildly elevated creatine kinase, Alopecia universalis, Hypoplasia of the uterus, Alopecia	OMIM:600705
Atypical Werner Syndrome	Premature graying of hair, Hypertriglyceridemia, White forelock, Patchy hypo- and hyperpigmentati...	ORPHA:79474
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, Lymphopenia, H...	OMIM:612541
Lysinuric Protein Intolerance	Abnormal renal tubule morphology, Abnormal bleeding, Argininuria, Anemia, Increased circulating a...	ORPHA:470
Dubowitz Syndrome	Anemia, Hypospadias, Sparse scalp hair, Sparse lateral eyebrow, Abnormality of skin pigmentation,...	ORPHA:235
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Leukocytosis, Reticulocytosis, Thrombocytopenia, Hemoglobinuria, Mic...	ORPHA:90038
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Leukonychia, Retinal dysplasia, Abnormal hair morphology, Retinal dystrophy, Retin...	ORPHA:2526
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Onychogryposis, Hyperlipidemia, Impaired glucose tolerance, Sparse ...	OMIM:248370
Shigellosis	Acute kidney injury, Purpura, Urethritis, Hemolytic-uremic syndrome, Splenic abscess, Leukocytosi...	ORPHA:810
Macrocephaly/Autism Syndrome	Splenomegaly, Lymphopenia, Penile freckling, Coarse hair, Hydrocele testis	OMIM:605309
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Red hair, Hyperbilirubinemia	OMIM:609734
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Decreased circu...	OMIM:212065
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis, Dark urine, Renal cyst	ORPHA:79303
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Anemia, Dysuria, Thrombocytopenia, Abnormality of neutrophils, Renal...	ORPHA:36426
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Abnormal hair morphology, Abnormal hair quantity, Po...	ORPHA:647
Yellow Fever	Prolonged prothrombin time, Hematemesis, Abnormal bleeding, Acute kidney injury, Anuria, Leukocyt...	ORPHA:99829
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop...	ORPHA:90362
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Elevated circulating C-reactive protein...	OMIM:301074
Brittle Cornea Syndrome 1	Red hair, Keratoglobus, Keratoconus, Decreased corneal thickness, Abnormal cornea morphology	OMIM:229200
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Axial malrotation of the kidney, Thrombocytopenia, Horseshoe kidney	ORPHA:3320
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Acute Generalized Exanthematous Pustulosis	Hyperpigmentation of the skin, Leukocytosis, Neutrophilia, Conjunctivitis, Eosinophilia, Neutropenia	ORPHA:293173
Dent Disease 1	Glycosuria, Hypophosphatemia	OMIM:300009
Systemic Lupus Erythematosus	Hematuria, Pyuria, Alopecia, Retinopathy, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic an...	ORPHA:536
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Broad eyebrow, Thrombocytopenia, Sacral hypertrichosis	ORPHA:457351
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Anemia, Proteinuria, Renal insufficiency, Pigmentary retino...	ORPHA:90321
Magel2-Related Prader-Willi-Like Syndrome	External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino...	ORPHA:398069
Overlap Myositis	Abnormality of the kidney, Thrombocytopenia, Leukopenia	ORPHA:206572
Aicardi-Goutieres Syndrome 1	Petechiae, Purpura, Thrombocytopenia, Splenomegaly	OMIM:225750
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:88628
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Anemia, Neutropenia, Dysuria, Thrombocytopenia, Renal insufficiency,...	ORPHA:537
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Neutropenia in presence of...	ORPHA:525731
Sialuria	Attention deficit hyperactivity disorder, Prolonged prothrombin time, Memory impairment	ORPHA:3166
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	ORPHA:508542
Cockayne Syndrome	Dry hair, Optic atrophy, Urinary incontinence, Unilateral renal agenesis, Retinal dystrophy, Neur...	ORPHA:191
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Abnormal external genitalia, Hirsutism, Aplasia of the uterus, Aplasia of ...	OMIM:158330
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Retinal detachment, Corneal dystrophy, Decreased corneal thickness...	ORPHA:90354
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Purpura, Increased circulating antibody level, Norm...	ORPHA:289390
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Dicarboxylic aciduria, Decreased circulating IgG level, 3-hydroxydica...	OMIM:613070
Jacobsen Syndrome	Optic atrophy, Hypospadias, Abnormal eyelash morphology, Thrombocytopenia, Chorioretinal coloboma...	OMIM:147791
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased ...	OMIM:212750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Neonatal hypoglycemia, Clitoral hypertrophy, Frontal balding, Precocious puberty in...	ORPHA:90794
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia	ORPHA:169160
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,...	ORPHA:3261
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Tyrosinemia, Type I	Prolonged prothrombin time, Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrha...	OMIM:276700
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Hardikar Syndrome	Hematemesis, Decreased serum insulin-like growth factor 1, Hydroureter, Pyelonephritis, Recurrent...	OMIM:301068
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair	ORPHA:53271
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, Hyperpigmentati...	ORPHA:35078
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Increased circulating myelocyte count, E...	ORPHA:36234
Melas	Optic atrophy, Anemia, Proximal tubulopathy, Focal segmental glomerulosclerosis, Vitiligo, Protei...	ORPHA:550
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Remnant...	OMIM:620185
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Prolonged bleeding ti...	OMIM:618280
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop...	OMIM:617099
Lathosterolosis	Anisopoikilocytosis, Hypoplasia of penis, Thrombocytopenia, Abnormal platelet morphology, Horsesh...	ORPHA:46059
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Autosomal Recessive Malignant Osteopetrosis	Anemia, Optic nerve compression, Hypocalcemia, Abnormality of hair texture, Hypophosphatemia, Spl...	ORPHA:667
Cowden Syndrome 1	Angioid streaks of the fundus, Varicocele, Ovarian cyst, Lymphopenia, Cataract, Ovarian carcinoma...	OMIM:158350
Cartilage-Hair Hypoplasia	Anemia, Decreased circulating antibody level, Mucopolysacchariduria, Sparse eyebrow, Abnormality ...	ORPHA:175
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr...	ORPHA:276
Gaucher Disease	Abnormal bleeding, Anemia, Increased circulating antibody level, Hematuria, Pancytopenia, Gingiva...	ORPHA:355
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Hypoglycemia, Hyperglycemia	OMIM:615453
Fanconi Anemia	Hypopigmented skin patches, Irregular hyperpigmentation, Renal hypoplasia/aplasia, Anemia, Hydrou...	ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Posterior synechiae of the anterior chamber, Pigmentary retinopathy, Retinal dyspl...	OMIM:613154
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hemorrh...	ORPHA:99827
Caroli Syndrome	Hematemesis, Abnormality of the kidney, Abnormal bleeding, Melena, Polycystic kidney dysplasia, L...	ORPHA:480520
Alport Syndrome 3A, Autosomal Dominant	Anterior polar cataract, Lenticonus, Hypophosphatemia, Azotemia	OMIM:104200
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia, Subconjunctival hemorrhage, Hema...	OMIM:617718
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Retinal detachment, Sparse scalp hair, Abnormality of...	ORPHA:394
Williams Syndrome	Retinal arteriolar tortuosity, Abnormal circulating lipid concentration, Hypoplasia of penis, Cor...	ORPHA:904
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Thrombocytopenia, Hyperglycemia, Hypoglycemia, Hyperglycinemia	OMIM:620423
Farber Disease	Anemia, Macular degeneration, Thrombocytopenia, Cherry red spot of the macula, Hepatosplenomegaly	ORPHA:333
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Pigmentary retinopathy	OMIM:612582
Gaucher Disease Type 3	Anemia, Increased circulating antibody level, Hematuria, Pancytopenia, Thrombocytopenia, Splenome...	ORPHA:77261
Gaucher Disease, Perinatal Lethal	Purpura, Anemia, Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:608013
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Retinal pigment epithelial mottling, Multiple ren...	OMIM:618733
Phace Syndrome	Retinal vascular malformation, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens c...	ORPHA:42775
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time, Abnormality of hair texture, Short attention span	ORPHA:88618
Pancreatic And Cerebellar Agenesis	Anemia, Optic nerve hypoplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus	OMIM:609069
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi...	OMIM:618935
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Retinal dystrophy, Azotemia, Hypoplasia of the ovary, Optic nerve hypoplasia, Gene...	OMIM:619321
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Hypokalemia, Hyperpigmentation of the skin, Lo...	OMIM:202010
Prader-Willi Syndrome	External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino...	ORPHA:739
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hyp...	OMIM:241080
Leptospirosis	Acute kidney injury, Optic neuritis, Chorioretinitis, Macular cotton wool spot, Retinal hemorrhag...	ORPHA:509
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Pigmentary retinopathy	OMIM:609015
Q Fever	Purpura, Anemia, Increased circulating antibody level, Hematuria, Thrombocytopenia, Splenomegaly,...	ORPHA:781
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Unilateral renal agenesis, Hypospadias, Highly arched eyebrow, Synophrys, Increase...	ORPHA:487796
Raine Syndrome	Highly arched eyebrow, Neonatal death, Hypophosphatemia	OMIM:259775
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia, Brushfield spots	OMIM:190685
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Fusariosis	Lung abscess, Abnormal retinal morphology, Brain abscess, Granuloma, Keratitis, Abnormality of th...	ORPHA:228119
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, Anemia, Leukocytosis, 3-Methylglutaric aciduria, Leukopenia, Thromboc...	ORPHA:20
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Abnormal bleeding, Increased circulating antibody level, Petechiae, N...	ORPHA:99826
Mucopolysaccharidosis Type 3	Optic atrophy, Coarse hair, Thick hair, Hirsutism, Pigmentary retinopathy, Synophrys, Mucopolysac...	ORPHA:581
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati...	OMIM:300972
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Renal hypopl...	OMIM:620005
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Anemia, Lymphopenia	ORPHA:935
Estrogen Resistance Syndrome	Breast hypoplasia, Hyperinsulinemia, Enlarged polycystic ovaries, Glucose intolerance, Hypoplasia...	ORPHA:785
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypoplastic fingernail, Hyperconvex fingernails	ORPHA:192
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia	ORPHA:139402
Leprechaunism	Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Facial hypertrichosis,...	ORPHA:508
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Uterine rup...	ORPHA:649
Trigeminal Neuralgia	Depression, Allodynia	ORPHA:221091
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
Proteus Syndrome	Irregular hyperpigmentation, Splenomegaly, Thymus hyperplasia, Generalized hyperpigmentation, Cen...	ORPHA:744
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Long eyelashes, Decreased hemoglobin concentration, Thrombocytopenia, Micr...	OMIM:619005
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal...	ORPHA:3008
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Wars2-Related Combined Oxidative Phosphorylation Defect	Rod-cone dystrophy, Thrombocytopenia	ORPHA:572798
Trisomy 8P	Astigmatism, Heterochromia iridis, Low posterior hairline, Cryptorchidism, Micropenis	ORPHA:264450
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Gastrointestinal hemorrhage, Enlarged kidney, Polycystic kidney dysplasia, R...	ORPHA:731
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Hypoplasia of the uterus, Accessory spleen, Highly arched eyebrow, Clitoral h...	OMIM:618419
Down Syndrome	Renal hypoplasia/aplasia, Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Sparse hair, Ac...	ORPHA:870
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Hypophosphatemia, Hypoglycemia	OMIM:229600
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Thick hair, Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Cockayne Syndrome B	Dry hair, Optic atrophy, Renal insufficiency, Abnormal hair morphology, Hypoplasia of the iris, A...	OMIM:133540
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Leuko...	OMIM:615688
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:829
Aicardi-Goutieres Syndrome 7	Hematemesis, Anemia, Increased circulating antibody level, Pancytopenia, Nephrotic syndrome, Thro...	OMIM:615846
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Thrombocytopenia, Splenomegaly, Generalized aminoaciduria	OMIM:251880
Cog8-Cdg	Prolonged prothrombin time, Spontaneous hematomas	ORPHA:95428
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautof...	OMIM:209900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hydronephrosis, Thrombocytopenia, Aplasia/Hypoplasia of the nails, Intracran...	ORPHA:163979
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me...	OMIM:615812
Cockayne Syndrome A	Dry hair, Optic atrophy, Renal insufficiency, Retinal atrophy, Abnormality of skin pigmentation, ...	OMIM:216400
Myopathy, Mitochondrial, And Ataxia	Thick hair, Pigmentary retinopathy	OMIM:617675
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Optic atrophy, Generalized aminoaciduria, Pigmentary retinopathy, Con...	ORPHA:404454
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Dent Disease	Cataract, Glycosuria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Freckling, Pigmentary retinopathy	OMIM:610651
Monosomy 13Q34	Prolonged prothrombin time, Horizontal eyebrow, Epistaxis, Hematochezia, Fetal pyelectasis	ORPHA:96168
Trisomy 18	Abnormality of the upper urinary tract, Abnormal toenail morphology, Abnormality of retinal pigme...	ORPHA:3380
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Hypopigmentation of hair, Abnormality of hair texture, Vesicou...	ORPHA:96169
Isolated Sedoheptulokinase Deficiency	Hypochromic microcytic anemia, Anemia, Postprandial hyperglycemia	ORPHA:440713
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Anemia, Microscopic hematuria, Thrombocytopenia, Splenomegaly, Membra...	OMIM:619525
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair, Hypertyrosinemia, Neonatal death, Hyperglycemia, Recurrent hypoglycemia, Cataract, ...	OMIM:124000
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Decreased circulating antibody level, Vesicouret...	OMIM:274000
Wilson Disease	Increased urinary copper concentration, Anemia, Hypercalciuria, Nephrolithiasis, Hyperphosphaturi...	OMIM:277900
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Splenomegaly	OMIM:618641
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Nephrotic range proteinuria, Leukocytosis, Thrombocytopenia, Oliguri...	ORPHA:544482
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:620565
Williams-Beuren Syndrome	Premature graying of hair, Retinal arteriolar tortuosity, Medial flaring of the eyebrow, Glucose ...	OMIM:194050
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, 3-Methylglutaconic aciduria, Optic atrophy, Chorioretinal hyperpigmen...	OMIM:618329
Brucellosis	Purpura, Anemia, Increased circulating IgG level, Chorioretinitis, Leukocytosis, Intrarenal absce...	ORPHA:1304
Gaucher Disease, Type Ii	Anemia, Thrombocytopenia, Splenomegaly	OMIM:230900
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Classical Ehlers-Danlos Syndrome	Bladder diverticulum, Prolonged bleeding time, Ecchymosis, Bruising susceptibility	ORPHA:287
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Epispadias, Abnormal vitreous humor morphology, Hypospadias, Retinal ...	ORPHA:2556
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, Sclerocornea, Ca...	OMIM:309801
Limb-Mammary Syndrome	Nail dysplasia, Chronic irritative conjunctivitis, Aplasia of the ovary, Breast aplasia, Hypoplas...	ORPHA:69085
Whim Syndrome	Neutropenia, Abnormal neutrophil morphology, Vitiligo, Lymphopenia, Cervix cancer	ORPHA:51636
Woodhouse-Sakati Syndrome	Hyperinsulinemia, Hypoplasia of the uterus, Abnormal spermatogenesis, Hyperlipidemia, Hypoplasia ...	ORPHA:3464
Sweet Syndrome	Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly...	ORPHA:3243
Aicardi Syndrome	Optic atrophy, Retinal detachment, Sparse lateral eyebrow, Abnormality of skin pigmentation, Abno...	ORPHA:50
Tangier Disease	Nail dystrophy, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:31150
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Urinary incontinence, Hyperpigmentation of the skin, Retinal degeneration, Acantho...	OMIM:234200
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Highly arched eyebrow, Hypoplastic fifth toenail, Sparse scalp hair, Lo...	OMIM:615866
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema	OMIM:146255
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Hyper-Igd Syndrome	Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod-cone dystrophy, Optic disc pallor	OMIM:260920
Acute Liver Failure	Prolonged prothrombin time, Acute kidney injury, Gastrointestinal hemorrhage, Abnormal bleeding, ...	ORPHA:90062
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hyperparathyroidism-Jaw Tumor Syndrome	Testicular neoplasm, Uterine leiomyoma, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Elevated circulating thyroid-stimulating hormone concentration, Increa...	OMIM:256040
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Hematochezia, Splenomegaly	OMIM:613812
Deeah Syndrome	Low posterior hairline, Decreased circulating free T3, Decreased hemoglobin concentration, Decrea...	OMIM:619004
Parathyroid Carcinoma	Testicular neoplasm, Uterine leiomyoma, Hypercalcemia, Hypophosphatemia	ORPHA:143
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Fibular Hemimelia	Renal dysplasia, Thrombocytopenia	ORPHA:93323
Sarcoidosis	Anemia, Hyperpigmentation of the skin, Hypercalciuria, Hypopigmentation of the skin, Increased T ...	ORPHA:797
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia	OMIM:615954
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Abscess, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:612852
Chromosome 17Q12 Deletion Syndrome	Nail dysplasia, Nail dystrophy, Small nail, Highly arched eyebrow, Aplasia of the vagina, Aplasia...	OMIM:614527
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Alagille Syndrome 1	Duplicated collecting system, Renal tubular acidosis, Chorioretinal atrophy, Vesicoureteral reflu...	OMIM:118450
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Jacobsen Syndrome	Bone marrow hypocellularity, Hydronephrosis, Thrombocytopenia, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:2308
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
22Q11.2 Deletion Syndrome	Hypopigmented skin patches, Optic atrophy, Gastrointestinal hemorrhage, Purpura, Hypospadias, Pol...	ORPHA:567
Liver Disease, Severe Congenital	Nail dystrophy, Anemia, Hypospadias, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoprotein...	OMIM:619991
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Hematochezia	OMIM:214950
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Hypospadias, Hyperuricemia, Impaired glucose tolerance, Bic...	OMIM:137920
Kikuchi-Fujimoto Disease	Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Alopecia, Leukopeni...	ORPHA:50918
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph...	OMIM:102700
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Optic atrophy, Multiple glomerular cysts, Rod-cone dystrophy, P...	ORPHA:255210
Degcags Syndrome	Premature graying of hair, Abnormal spleen morphology, Hypopigmentation of the skin, Low posterio...	OMIM:619488
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti...	OMIM:600802
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Increased circulating IgA level, Abnormal optic nerve morphology, Increa...	ORPHA:79078
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Dermatan sulfate excretion in urine, Retinopathy, Abnormal foveal morphology, Papi...	ORPHA:217085
Mitchell-Riley Syndrome	Hyperbilirubinemia, Diabetes mellitus, Hyperglycemia	OMIM:615710
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Facial hirsutism, Thick hair, Highly arched eyebrow, Curly hair, Long eyelashes, Syn...	ORPHA:444077
Bardet-Biedl Syndrome	Hypertriglyceridemia, Hydrometrocolpos, Decreased HDL cholesterol concentration, Medial flaring o...	ORPHA:110
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Dermatan sulfate excretion in urine, Retinopathy, Abnormal foveal morphology, Papi...	ORPHA:217093
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Splenomegaly, ...	OMIM:249100
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Pigmentary retinopathy	OMIM:614230
Autoinflammatory Disease, Systemic, With Vasculitis	Purpura, Anemia, Increased B cell count, Increased T cell count, Abnormal circulating IgG level, ...	OMIM:620376
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Idiopathic Hypereosinophilic Syndrome	Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Thrombocytopenia, Splenomegaly, ...	ORPHA:3260
1P36 Deletion Syndrome	Optic atrophy, Abnormal female external genitalia morphology, Hypospadias, Hypoplasia of penis, H...	ORPHA:1606
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
Cushing Disease	Optic nerve compression, Decreased eosinophil count, Hyperpigmentation of the skin, Hirsutism, Le...	ORPHA:96253
Pudendal Neuralgia	Allodynia	ORPHA:60039
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Fanconi Anemia, Complementation Group L	Cafe-au-lait spot, Aplasia of the uterus, Anemia, Micropenis	OMIM:614083
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Leukocyte Adhesion Deficiency Type Ii	Anemia, Broad eyebrow, Leukocytosis, Long eyelashes, Neutrophilia, Low anterior hairline, Keratit...	ORPHA:99843
Autosomal Recessive Hypophosphatemic Rickets	Tooth abscess, Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Tick-Borne Encephalitis	Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Thrombocytopenia,...	ORPHA:297
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Mucopolysaccharidosis Type 2	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:580
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Roberts Syndrome	Polycystic kidney dysplasia, Thrombocytopenia, Sparse hair, Long penis	ORPHA:3103
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Increased uri...	ORPHA:247598
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Spontaneous, recurrent epistaxis, Papilledema, Thrombocytopenia, Abnormalit...	ORPHA:2072
Popliteal Pterygium Syndrome	Popliteal pterygium, Pyramidal skinfold extending from the base to the top of the nails, Bifid sc...	OMIM:119500
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time, Hydronephrosis, Decreased serum insulin-like growth factor 1	OMIM:614921
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Urinary incontinence	ORPHA:466768
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Acute promyelocytic leukemia, Thrombocytopenia, Splenomegaly, Cherry red spot ...	ORPHA:77293
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Isolated Permanent Neonatal Diabetes Mellitus	Retinopathy, Glycosuria, Hyperglycemia, Neonatal insulin-dependent diabetes mellitus	ORPHA:99885
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Ogden Syndrome	Enlarged kidney, Iron deficiency anemia, Polycystic kidney dysplasia, Long eyelashes, Polycythemi...	OMIM:300855
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Intraventricular hemorrhage, Aminoaciduria	OMIM:619055
Spinal Cord Injury	Allodynia	ORPHA:90058
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Low posterior hairline, Abnormal fingernail morphology, Sparse eyebrow, Bif...	ORPHA:1521
Meckel Syndrome 12	Antecubital pterygium, Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly	OMIM:301072
Isolated Biliary Atresia	Prolonged prothrombin time, Dark yellow urine, Splenomegaly	ORPHA:30391
Microphthalmia, Syndromic 9	Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Neonatal death, Cryptorchidism, Hyp...	OMIM:601186
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Abnormal bleeding, Hypospadias, Amegakaryocytic thrombocytopeni...	OMIM:163950
Smith-Lemli-Opitz Syndrome	Optic atrophy, Clitoral hypertrophy, Hypospadias, Hypopigmentation of hair, Hypoplasia of penis, ...	ORPHA:818
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphopenia, Decreased proportion of CD4-positive ...	OMIM:619573
Ramon Syndrome	Optic disc pallor, Hypertrichosis, Pigmentary retinopathy	OMIM:266270
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Allodynia, Dementia	OMIM:603041
Scorpion Envenomation	Mydriasis, Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemia,...	ORPHA:466677
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Renal cyst	OMIM:272460
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Abnormal hair whorl, Aplasia of the vagina	ORPHA:457284
Wolf-Hirschhorn Syndrome	Hypospadias, Hyperconvex fingernails, Highly arched eyebrow, Accessory spleen, Aplasia of the ute...	OMIM:194190
Blepharophimosis, Ptosis, And Epicanthus Inversus	Highly arched eyebrow, Microcornea, Hypoplasia of the uterus, Sparse pubic hair	OMIM:110100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time, Polycythemia, Splenomegaly	ORPHA:309854
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Shawl scrotum, Coarse hair, Widow's peak	ORPHA:1974
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Oroticaciduria	OMIM:311250
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Menkes Disease	Woolly hair, Hypoglycemia, Hypopigmentation of hair, Sparse hair	ORPHA:565
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Astigmatism, Hypospadias, Aplasia of the uterus, Sparse scalp hair, Long ey...	OMIM:135900
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Hypoplasia of the thymus, Impaired T cell function, Hydronephr...	OMIM:188400
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Benign Schwannoma	Allodynia	ORPHA:252164
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula,...	OMIM:201750
Okamoto Syndrome	Astigmatism, Extension of hair growth on temples to lateral eyebrow, Bifid uterus, Splenomegaly, ...	ORPHA:2729
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353281
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Hypospadias, Increased serum testosterone level, Optic disc hypoplasia, Dilatation...	ORPHA:3455
Ehlers-Danlos Syndrome, Vascular Type	Alopecia of scalp, Anemia, Keratoconus, Cervical insufficiency, Cryptorchidism, Uterine prolapse,...	OMIM:130050
Phocomelia, Schinzel Type	Nail dysplasia, Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Osteogenesis Imperfecta	Hypercalciuria, Nephrolithiasis, Thrombocytopenia, Cerebral hemorrhage, Bruising susceptibility	ORPHA:666
Lipodystrophy, Familial Partial, Type 7	Polyuria, Sparse scalp hair, Pigmentary retinopathy, Sparse hair	OMIM:606721
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Highly arched eyebrow, Hirsutism, Hyperammonemia, Hyperglycemia, Low anterior hairli...	OMIM:220111
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Renal ...	ORPHA:171
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Micropenis, Chronic lymphatic leukemia	ORPHA:51
Neu-Laxova Syndrome 1	Stillbirth, Pterygium, Absent eyelashes, Neonatal death, Bifid uterus, Cataract, Cryptorchidism	OMIM:256520
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Uterine rupture, Keratoconus, Abnormal eyelash morphology, Abnormality ...	ORPHA:286
Hydrolethalus Syndrome 1	Stillbirth, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus	OMIM:236680
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperlipidemia, Hyponatremia, Hyperglycemia	ORPHA:293987
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353277
Pallister-Killian Syndrome	Stillbirth, Aplasia of the upper vagina, Hypospadias, Small scrotum, Hypoplastic labia majora, La...	OMIM:601803
Peters Plus Syndrome	Optic atrophy, Hypospadias, Microcornea, Corneal opacity, Clitoral hypoplasia, Cryptorchidism, Ca...	ORPHA:709
Peters-Plus Syndrome	Hypospadias, Hypoplastic labia majora, Retinal coloboma, Clitoral hypoplasia, Cryptorchidism, Hyp...	OMIM:261540
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Heart Defects, Congenital, And Other Congenital Anomalies	Glycosuria, Diabetes mellitus, Hyperglycemia	OMIM:600001
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Chorioreti...	OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of the uterus, Anonychi...	OMIM:276820
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Highly arched eyebrow, Hypergonadotropic hypogonadism, Thick eyebrow, Polycystic ovaries, Streak ...	ORPHA:572333
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term developmental dysplasia	Dtnbp1^{tm1b(EUCOMM)Hmgu}	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dtnbp1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mice with dopaminergic neuron-specific deletion of DTNBP-1 gene show blunted nucleus accumbens dopamine release and associated behaviors.	Neuropharmacology (December 2020)	Dtnbp1^{tm1c(EUCOMM)Hmgu}	33340529
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.	Scientific reports (August 2019)	Dtnbp1^{tm1a(EUCOMM)Hmgu}	PMC6672016
BDNF rescues prefrontal dysfunction elicited by pyramidal neuron-specific DTNBP1 deletion in vivo.	Journal of molecular cell biology (April 2017)	Dtnbp1^{tm1c(EUCOMM)Hmgu} Dtnbp1^{tm1a(EUCOMM)Hmgu}	PMC6080364

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Dtnbp1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dtnbp1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Dtnbp1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Dtnbp1 MGI:2137586

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

X-ray

Combined SHIRPA and Dysmorphology

X-ray

Gross Pathology and Tissue Collection

Histopathology

X-ray

Eye Morphology

Human diseases caused by Dtnbp1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data