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Gene: Vps33a MGI:1924823

Gene Summary

Name:

VPS33A CORVET/HOPS core subunit

Synonyms:

3830421M04Rik, bf

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
embryonic lethality prior to organogenesis	Vps33a^em2(IMPC)Tcp	HOM	E9.5	0.00
increased neutrophil cell number	Vps33a^em2(IMPC)Tcp	HET	Early adult	2.00×10^-08
abnormal sternum morphology	Vps33a^em2(IMPC)Tcp	HET	Late adult	0.00
increased red blood cell distribution width	Vps33a^em2(IMPC)Tcp	HET	Early adult	1.83×10^-05
enlarged kidney	Vps33a^em2(IMPC)Tcp	HET	Late adult	0.00
short tibia	Vps33a^em2(IMPC)Tcp	HET	Late adult	2.59×10^-05
increased heart weight	Vps33a^em2(IMPC)Tcp	HET	Early adult	7.50×10^-09
preweaning lethality, complete penetrance	Vps33a^em2(IMPC)Tcp	HOM	Early adult	0.00
prenatal lethality prior to heart atrial septation	Vps33a^em2(IMPC)Tcp	HOM	E15.5	0.00
increased spleen weight	Vps33a^em2(IMPC)Tcp	HET	Early adult	1.33×10^-06
decreased lymphocyte cell number	Vps33a^em2(IMPC)Tcp	HET	Early adult	3.62×10^-05
enlarged urinary bladder	Vps33a^em2(IMPC)Tcp	HET	Late adult	0.00

Download data as: TSV XLS

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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.

Electrocardiogram (ECG)

Waveform Image

7 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

156 Images

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Gross Pathology and Tissue Collection

Images

20 Images

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Eye Morphology

Images Slit Lamp

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

15 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Vps33a 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 Vps33a (2 diseases)
Human diseases predicted to be associated with Vps33a (1201 diseases)

The table below shows human diseases associated to Vps33a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mucopolysaccharidosis-Plus Syndrome		Enlarged kidney, Hepatomegaly, Clubbing, Focal segmental glomerulosclerosis, Flared iliac wing, N...	OMIM:617303
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders		Optic atrophy, Enlarged kidney, Thick hair, Long eyelashes, Nephrotic syndrome, Bone marrow hypoc...	ORPHA:505248

The table below shows human diseases predicted to be associated to Vps33a by phenotypic similarity.

Disease	Matching phenotypes	Source
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Glanzmann Thrombasthenia 2	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D...	OMIM:619267
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides	OMIM:103500
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Hypopigmentation of hair, Impaired platelet aggregation, Spontaneous, recurren...	OMIM:614072
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired...	OMIM:273800
Thrombocytopenia 7	Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:619130
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib...	OMIM:614076
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate...	OMIM:618462
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Bleeding Disorder, Platelet-Type, 18	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men...	OMIM:615888
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Anemia, Jaundice, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Abnormal platelet aggregation, Thrombocytopenia, Hypopigmentation o...	OMIM:614171
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Hermansky-Pudlak Syndrome 11	Iris transillumination defect, Reduced platelet dense granules, Gingival bleeding, Impaired colla...	OMIM:619172
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa...	OMIM:619271
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Platelet Signal Processing Defect	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel...	OMIM:173590
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ...	OMIM:614201
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Absent platelet dense granules, Impaired ADP-induced platelet aggr...	OMIM:614074
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty...	ORPHA:241
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time, Abnormal bleeding	OMIM:314560
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Glanzmann Thrombasthenia	Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi...	ORPHA:849
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormality of the kidney, Abnormal bleeding, Giant platelets, Impaired epinephrine-induced plate...	OMIM:155100
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria	OMIM:236130
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b...	OMIM:609821
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigmentation of the skin, Hypo...	OMIM:619165
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Hepatomegaly, Anemia, Jaundice, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the fundus, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Bleeding Disorder, Platelet-Type, 25	Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi...	OMIM:620486
Dowling-Degos Disease 3	Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules	OMIM:615674
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb...	OMIM:124900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Silver-gray hair, Melanin pigment aggregation in hair shafts, H...	OMIM:607624
Bernard-Soulier Syndrome	Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno...	OMIM:231200
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ...	OMIM:617294
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding, Epistaxis, Hematochezi...	OMIM:203300
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis...	OMIM:614009
Thrombocytopenia 9	Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ...	OMIM:612447
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat...	OMIM:187950
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency	ORPHA:655
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus	ORPHA:2435
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Excessive bleeding from superficial cuts, Silver-gray hair, Impair...	OMIM:614077
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Von Willebrand Disease, Type 3	Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia...	OMIM:277480
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Petechi...	OMIM:187800
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal platelet function, Thrombocytopenia	ORPHA:231393
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:617443
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi...	OMIM:203200
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Hermansky-Pudlak Syndrome 6	Iris transillumination defect, Absent platelet dense granules, Urinary incontinence, Macular hypo...	OMIM:614075
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding	OMIM:608404
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:173420
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Optic atrophy, Macular dystrophy, Hypopigmentation of hair, Hypopigmen...	ORPHA:33445
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ...	ORPHA:93323
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Myh9-Related Disease	Giant platelets, Renal insufficiency, Spontaneous, recurrent epistaxis, Increased mean platelet v...	ORPHA:182050
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy	OMIM:300719
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Multiple cafe-au-lait spots	ORPHA:638
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs...	ORPHA:89838
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Oculocutaneous Albinism Type 3	Blue irides, Optic nerve misrouting, Red hair, Hypopigmentation of the skin, Iris hypopigmentatio...	ORPHA:79433
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Alopecia, Mixed hypo...	ORPHA:79397
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Anonychia With Flexural Pigmentation	Macular telangiectasia, Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Anony...	ORPHA:69125
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology	ORPHA:2786
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Hypoplasia of the fovea, Fair hair	OMIM:113750
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Whim Syndrome 2	Chronic neutropenia, Tetralogy of Fallot	OMIM:619407
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Gray Platelet Syndrome	Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu...	OMIM:139090
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Hypopigmentation of the skin	OMIM:610798
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ...	ORPHA:79435
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Ethanolaminosis	Cardiomegaly	OMIM:227150
Factor V Deficiency	Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P...	OMIM:227400
Gemignani Syndrome	Hypopigmented skin patches, Hypoplasia of penis	ORPHA:2074
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid...	OMIM:613091
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, White forelock, Patchy hypo- and hyperpigmentation, Chorioretinal co...	OMIM:601706
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista...	OMIM:193400
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Abnormality of the kidney, Hypopigmentatio...	ORPHA:895
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Hemophilia B	Cephalohematoma, Hematuria, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemor...	ORPHA:98879
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Retinal d...	OMIM:275400
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru...	OMIM:605735
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Purpura, Abnormal dense granule content, Impaired platelet aggregation, Petechiae, Abnormal plate...	OMIM:601399
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Optic nerve misrouting, Macular hypopigmentation, Hyp...	ORPHA:79432
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Retinopathy, Iris hypopigmentation, Partial albinism	ORPHA:79476
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Bernard-Soulier Syndrome	Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele...	ORPHA:274
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Acrorenal Syndrome	Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Micro...	ORPHA:971
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Irregular hyperpigmentation, Hypospadias, Hypoplasia of penis, Generalized hypopigmentation, Neph...	ORPHA:1816
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Oculocutaneous Albinism Type 1	Iris transillumination defect, Abnormal morphology of the choroidal vasculature, Generalized hypo...	ORPHA:352731
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne...	OMIM:619902
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Quebec Platelet Disorder	Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni...	OMIM:601709
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Abnormal heart morphology, T lymphocytopenia	DECIPHER:16
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p...	OMIM:251270
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of...	ORPHA:79399
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Increased mean platelet ...	OMIM:153670
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:188025
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Hematuria, Nephrolithiasis, Abnormality of retinal pigmentation, Chorioretinal ...	ORPHA:2196
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he...	OMIM:613679
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre...	OMIM:145250
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Thumb Deformity And Alopecia	Increased groin pigmentation with raindrop depigmentation, Alopecia	OMIM:188150
Usher Syndrome Type 3	Cataract, Iris hypopigmentation, Astigmatism	ORPHA:231183
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Generalized hypopigmentation, Impaired ADP-induced platelet aggre...	OMIM:608233
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Slc35A1-Cdg	Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc...	ORPHA:238459
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Sea-Blue Histiocytosis	Abnormal bleeding, Hyperpigmentation of the skin, Petechiae, Hypopigmentation of the skin, Retino...	ORPHA:158029
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epitheliu...	ORPHA:1433
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
X-Linked Recessive Ocular Albinism	Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Abnormal pupil m...	ORPHA:54
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Chronic kidney disease,...	ORPHA:3156
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Phenylketonuria	Phenylalaninuria, Hypopigmentation of the skin	ORPHA:716
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling	OMIM:551500
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopenia, Epi...	OMIM:314050
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Meckel Syndrome, Type 8	Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Talipes equino...	OMIM:613885
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Wolfram Syndrome 2	Optic atrophy, Abnormal bleeding, Neurogenic bladder, Decreased circulating antibody level, Optic...	OMIM:604928
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Hyperpigmentation of th...	ORPHA:189
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair	ORPHA:1355
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Ridged f...	ORPHA:2251
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Hepatomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Facial Spasm	Anisocoria	OMIM:134300
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Phenylketonuria	Increased level of hippuric acid in urine, Generalized hypopigmentation, Elevated urinary phenylp...	OMIM:261600
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Femoral-Facial Syndrome	Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Ab...	ORPHA:1988
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Sparse hair, Retinal degeneration, Micropenis, Pigmentary retinopathy, Alopecia	ORPHA:3363
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Short ...	OMIM:620076
Eem Syndrome	Macular dystrophy, Sparse scalp hair, Absent eyebrow, Retinopathy, Sparse body hair, Abnormality ...	ORPHA:1897
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Retinal detachment, Abnormal eyelash morph...	ORPHA:3437
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:98870
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Essential Thrombocythemia	Abnormal bleeding, Thrombocytosis, Abnormal platelet morphology, Bruising susceptibility, Prolong...	ORPHA:3318
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I...	ORPHA:999
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Spotty hyperpigmen...	ORPHA:79133
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Anemia, Hemophagocytosis, Jaundice, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79431
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Immunodeficiency 81	Petechiae, Reduced antigen-specific T cell proliferation, Impaired collagen-induced platelet aggr...	OMIM:619374
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d...	ORPHA:79106
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Woolly Hair Nevus	Persistent pupillary membrane, Heterochromia iridis, Patchy hypopigmentation of hair	ORPHA:79414
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Micrognathia	OMIM:618272
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre...	ORPHA:85188
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici...	ORPHA:325
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi...	ORPHA:903
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Aplasia Cutis-Myopia Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation	ORPHA:1117
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding	ORPHA:1059
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Thrombocytopenia, Proteinuria, Macro...	OMIM:603585
Tibial Hemimelia	Absent tibia	OMIM:275220
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for...	OMIM:148820
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine	OMIM:266130
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Vici Syndrome	Optic atrophy, Renal tubular acidosis, Hypopigmentation of the skin, Decreased circulating IgG le...	ORPHA:1493
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal refle...	OMIM:204100
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Proximal placement of thumb, Hand polydactyly, Hydronephrosis, Short humerus, Ur...	OMIM:314390
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Hypopigmentation of the skin, Fair hair	OMIM:269920
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Hammertoe, Talipes equinovarus, Nephroblastoma...	OMIM:608022
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir...	OMIM:611584
Neurocutaneous Melanocytosis	Renal hypoplasia/aplasia, Abnormality of retinal pigmentation, Generalized hirsutism, Chorioretin...	ORPHA:2481
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,...	ORPHA:3214
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Gingival bleeding, Epistaxis, Bruising susceptibility, Ocular albinism	ORPHA:352723
Deafness-Lymphedema-Leukemia Syndrome	Abnormal optic nerve morphology, Bone marrow hypocellularity, Thrombocytopenia, Bruising suscepti...	ORPHA:3226
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Thrombocytopenia-Absent Radius Syndrome	Cervical ribs, Abnormality of the kidney, Fibular aplasia, Clinodactyly of the 5th finger, Aplasi...	ORPHA:3320
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Thin ribs, Femoral bowing, Short ribs, Short long bon...	OMIM:618188
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71526
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
Leber Congenital Amaurosis 1	Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreoninuria, Pigme...	OMIM:204000
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Petechiae, Iris hypopigmentation, Partial al...	ORPHA:79477
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Storage Pool Platelet Disease	Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding	OMIM:185050
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Hepatomegaly	OMIM:604273
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, S...	OMIM:616300
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Slc35A2-Cdg	Transient nephrotic syndrome, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus...	ORPHA:356961
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di...	ORPHA:166016
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar...	ORPHA:1106
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Hypopigmentation of hair, Hypopigmentation of the...	ORPHA:79430
Sjögren-Larsson Syndrome	Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera...	ORPHA:816
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation...	ORPHA:158681
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Femoral bowing, Talipes equinovarus	OMIM:615415
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Preaxial polydactyly, Fibular bowing, Hypospadias, Sandal gap, Hitchhiker thumb,...	OMIM:612651
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Highly arched eyebrow, Multiple cafe-au-lait spots, Abnormality of th...	ORPHA:1807
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
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
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Short ribs, Short humerus, Short f...	OMIM:607143
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,...	OMIM:602111
Klippel-Trénaunay Syndrome	Prolonged bleeding time, Gastrointestinal hemorrhage, Hematuria, Internal hemorrhage	ORPHA:90308
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Hypopigmentation of the skin, Abnormality of hair texture	OMIM:601957
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Reduced renal corticomedullary differentiation, Hypopigmentation of the skin, ...	OMIM:618541
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Chédiak-Higashi Syndrome	Abnormal bleeding, Increased proportion of CD25+ mast cells, Hypopigmentation of hair, Abnormal p...	ORPHA:167
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi...	OMIM:619802
Hemochromatosis, Type 3	Cirrhosis, Anemia, Cardiomyopathy, Lymphopenia, Neutropenia	OMIM:604250
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ...	ORPHA:1390
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Jeune Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Nephronophthisis, Nephropathy	ORPHA:474
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
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, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Dohle Bodies And Leukemia	Secundum atrial septal defect, Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613266
Retinitis Pigmentosa 51	Abnormality of the kidney, Bone spicule pigmentation of the retina, Macular degeneration, Attenua...	OMIM:613464
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Albinism, Oculocutaneous, Type Ia	Blue irides, Astigmatism, Hypopigmentation of hair, White hair, Albinism, Absent skin pigmentatio...	OMIM:203100
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Hematuria, Impaired platelet adhesion, Oral cavity bleeding, Menorrh...	ORPHA:324636
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ...	ORPHA:56305
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Bardet-Biedl Syndrome 3	Renal hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Abnormal eyelash morphol...	ORPHA:381
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Heimler Syndrome 1	Macular dystrophy, Leukonychia, Retinal pigment epithelial mottling, Beau's lines	OMIM:234580
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Spontaneous, recurrent epistaxis, Hypopigmentation of...	OMIM:214500
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Clubbing, Focal segmental glomerulosclerosis, Flared iliac wing, N...	OMIM:617303
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal foot morphology, Tapered toe, Long-...	OMIM:608836
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Hepatomegaly, Reduced red cell pyruvate kinase level, Jaundice, Choleli...	OMIM:266200
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches, Abnormal localization of kidney	ORPHA:1825
Menkes Disease	Brittle hair, Hypopigmentation of the skin, Intracranial hemorrhage, Sparse hair, Alopecia	OMIM:309400
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Hypopigmentation of hair, Alopecia	ORPHA:1067
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Immunodeficiency 95	Lymphopenia	OMIM:619773
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Laurence-Moon Syndrome	Chorioretinal atrophy, Micropenis, Pigmentary retinopathy	OMIM:245800
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Hydronephrosis, Abnormality of ...	ORPHA:873
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-p...	ORPHA:328
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Optic atrophy, Glomerulopathy, Abnormality of retinal pigmentation, P...	ORPHA:2715
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Increased circulati...	ORPHA:448237
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Joubert Syndrome 28	Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Naegeli-Franceschetti-Jadassohn Syndrome	Nail dystrophy, Decreased number of sweat glands, Dystrophic toenail, Hypopigmentation of the ski...	ORPHA:69087
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Jaundice, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Renal cell carcinoma	ORPHA:122
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ...	OMIM:600785
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Gingival bleeding, Prolonged ...	ORPHA:35909
Sickle Cell Disease	Hepatomegaly, Jaundice, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
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
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Thrombocytopenia	ORPHA:858
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches	ORPHA:3239
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis...	ORPHA:263479
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Ramon Syndrome	Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Mgat2-Cdg	Abnormal bleeding, Impaired platelet aggregation, Decreased circulating antibody level, Hirsutism...	ORPHA:79329
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Fractures of the long bo...	ORPHA:464329
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Enlarged kidney, Long foot, Tibial bowing, Abnormal femoral torsion, C...	ORPHA:500095
Macs Syndrome	Sparse eyebrow, Bruising susceptibility, Sparse hair, Urethral stenosis, Prolonged bleeding time,...	OMIM:613075
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys...	OMIM:263520
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Dent Disease 1	Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ...	OMIM:300009
Narp Syndrome	Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis...	ORPHA:644
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s...	OMIM:252500
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, A...	OMIM:145350
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Frontofacionasal Dysplasia	Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma	ORPHA:1791
Juvenile Xanthogranuloma	Uveitis, Iritis, Multiple cafe-au-lait spots, Asymmetry of iris pigmentation	ORPHA:158000
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Metaphyseal irregularity, Fibular bowing, Renal phosphate wasti...	OMIM:300554
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail, Alopecia	ORPHA:2584
Riboflavin Transporter Deficiency	Iris hypopigmentation	ORPHA:97229
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp...	OMIM:602450
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Stage 5 chronic kidney disease, Retinal pigment epithelial mottling, Proteinuria	OMIM:219900
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Renal hypoplasia/aplasia, Finger syndactyly, Abnormal pelvic girdle bone morp...	ORPHA:1788
Sitosterolemia 1	Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Abnormal bleeding	OMIM:210250
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time, Nephropathy, Alopecia	ORPHA:809
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Purpura, Glomerulopathy, Petechiae, Abnormal platelet functio...	ORPHA:906
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Jaundice, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Red hair, Fair hair	OMIM:614613
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Posterior...	ORPHA:364055
Bardet-Biedl Syndrome 6	Renal cyst, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy	OMIM:605231
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses	OMIM:166740
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation	ORPHA:834
Spondylo-Ocular Syndrome	Cataract, Iris hypopigmentation, Aplasia/Hypoplasia of the lens	ORPHA:85194
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Noonan Syndrome	Abnormal bleeding, Abnormal hair quantity, Abnormal platelet function, Low posterior hairline, Me...	ORPHA:648
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Proximal tubulopathy, Polyuria, Pigmentary retinopathy	OMIM:560000
Late-Onset Retinal Degeneration	Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,...	ORPHA:67042
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Iris transillumination defect, Microcornea, Generalized hypopigmentation	OMIM:617306
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low...	ORPHA:314795
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Hyperpigmentation ...	ORPHA:79473
Hypophosphatemic Rickets, X-Linked Dominant	Genu valgum, Fibular bowing, Renal phosphate wasting, Cupped metaphyses of hand bones, Tibial bow...	OMIM:307800
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder, Retinal flecks, Yellow/white lesions of the retina, Pigmen...	ORPHA:100996
Acute Radiation Syndrome	Thrombocytopenia, Hypopigmentation of the skin, Abnormal bleeding, Hyperpigmentation of the skin	ORPHA:454831
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Urinary incontinence, Recurrent urinary t...	OMIM:609033
Oculocerebral Hypopigmentation Syndrome, Preus Type	Generalized hypopigmentation, White hair, Iris hypopigmentation, Cataract, Ocular albinism	ORPHA:2720
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Waardenburg Syndrome, Type 1	Premature graying of hair, Heterochromia iridis, Synophrys, White forelock, Hypoplastic iris stro...	OMIM:193500
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Hepatomegaly, Portal fibrosis, Iron deficiency anemia, Portal hypertension, Splenomegal...	OMIM:616278
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Enlarged kidney, Foot polydactyly, 2-4 toe syndactyly, Nephroblastoma	ORPHA:276280
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ...	OMIM:164900
Tonne-Kalscheuer Syndrome	Blue irides	OMIM:300978
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti...	ORPHA:331206
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Postaxial hand polydactyly, Micromelia, Cystic renal dysplasia	OMIM:200995
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Renal insufficiency, Attenuation of retinal blood vessel...	OMIM:615986
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Joubert Syndrome 3	Nephronophthisis, Retinal dystrophy, Highly arched eyebrow, Stage 5 chronic kidney disease, Pigme...	OMIM:608629
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
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
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Bardet-Biedl Syndrome 17	Polyuria, Bone spicule pigmentation of the retina, Renal cyst, Cone/cone-rod dystrophy, Retinal d...	OMIM:615994
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Congenital Muscular Dystrophy With Intellectual Disability	Micropenis, Pigmentary retinopathy	ORPHA:370968
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri...	ORPHA:96334
Hypomelanosis Of Ito	Iris coloboma, Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Lichen Planus Pemphigoides	Abnormality of the nail, Hypopigmented streaks	ORPHA:254478
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Factor X Deficiency	Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra...	OMIM:227600
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Thrombocytopenia	ORPHA:290
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Impaired platelet aggrega...	OMIM:241200
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Cafe-au-lait spot, Blue irides	ORPHA:3041
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Beta-alaninuria, Elevated urinary 3-hydroxyisobutyric acid...	OMIM:614105
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Large Congenital Melanocytic Nevus	Hypopigmented skin patches, Abnormality of skin pigmentation, Generalized hirsutism, Congenital g...	ORPHA:626
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho...	OMIM:186500
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Atrichia, Congenital abnormal hair patte...	ORPHA:1867
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria	ORPHA:251004
Lichen Planopilaris	Hypopigmented skin patches, Onycholysis, Abnormal fingernail morphology, Alopecia	ORPHA:525
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Metaphyseal irregularity, Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ...	OMIM:208500
Immunodeficiency 44	Lymphopenia	OMIM:616636
Noonan Syndrome 12	Ventricular septal defect, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia	OMIM:618624
Obesity And Hypopigmentation	Red hair	OMIM:620195
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Chronic Actinic Dermatitis	Hypopigmented skin patches, Progressive hyperpigmentation	ORPHA:330064
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Fibular bowing, Enlargement of the costochondral junction, Renal phosphate wasting, Delayed epiph...	OMIM:241530
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, Hirsutism, Low posterior hairline, Synophrys, Abnormal hair whorl, Micropenis, Ho...	OMIM:300860
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Progressive reticulate hyperpigmentation, Mixed hypo- ...	ORPHA:79145
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Hypertroph...	OMIM:619705
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Phakomatosis Pigmentovascularis	Hypopigmented skin patches, Generalized hyperpigmentation	ORPHA:2875
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Cystinosis, Nephropathic	Low-molecular-weight proteinuria, Polyuria, Hematuria, Hypopigmentation of hair, Generalized amin...	OMIM:219800
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Polycystic kidney dysplasia, Thin ribs, Aplasia...	OMIM:200980
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:5
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Wiskott-Aldrich Syndrome	Hematemesis, Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensiti...	OMIM:301000
Lymphoid Interstitial Pneumonia	Clubbing, Enlarged kidney, Hepatomegaly	ORPHA:79128
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Methioninuria, Hypopigmentation of the skin, Homocystinuria	OMIM:236200
Alg9-Cdg	Narrow greater sciatic notch, Enlarged kidney, Hepatomegaly, Rhizomelia, Flared metaphysis, Hitch...	ORPHA:79328
Porphyria Cutanea Tarda	Increased urinary porphobilinogen, Hyperpigmentation of the skin, Porphyrinuria, Hirsutism, Hypop...	ORPHA:101330
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232200
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris	OMIM:249310
Angelman Syndrome	Blue irides, Hypopigmentation of the skin, Fair hair	OMIM:105830
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Neurogenic bladder, Hydronephrosis, Thrombocytopenia, Pigmentary reti...	OMIM:222300
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Omodysplasia 1	Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit...	OMIM:258315
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Renal hypoplasia/aplasia, Finger syndactyly, Th...	ORPHA:958
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
H Syndrome	Abnormality of the kidney, Enlarged kidney, Hallux valgus, Camptodactyly, Hepatosplenomegaly, Pes...	ORPHA:168569
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy, Sparse hair	OMIM:268020
Fibrochondrogenesis 1	Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Thi...	OMIM:228520
Porphyria, Congenital Erythropoietic	Loss of eyelashes, Red urine, Hyperpigmentation of the skin, Hypopigmentation of the skin, Absent...	OMIM:263700
Cholestasis, Progressive Familial Intrahepatic, 9	Intrahepatic cholestasis, Hepatomegaly, Jaundice, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal...	OMIM:208540
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Crouzon Syndrome	Hypopigmented skin patches, Optic atrophy, Melanocytic nevus, Iris coloboma	ORPHA:207
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Hypopigmentation of the skin, Horseshoe kidney, Alopecia	OMIM:163200
Hartnup Disease	Irregular hyperpigmentation, Abnormal urinary color, Hypopigmented skin patches, Neutral hyperami...	ORPHA:2116
Retinitis Pigmentosa 74	Abnormal renal morphology, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:616562
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Brushfield spots	ORPHA:1784
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232220
Hemophilia B	Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Hematuria, Melena, Petechia...	OMIM:306900
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Prolidase Deficiency	Hirsutism, Recurrent cystitis, White forelock, Abnormal fingernail morphology, Abnormality of ret...	ORPHA:742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Zellweger Syndrome	Abnormal chorioretinal morphology, Corneal opacity, Posterior embryotoxon, Brushfield spots, Cata...	ORPHA:912
Leigh Syndrome	Optic atrophy, Hypertrichosis, Pigmentary retinopathy	OMIM:256000
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Enhanced S-Cone Syndrome	Retinoschisis, Vitreoretinopathy, Macular edema, Pigmentary retinopathy	OMIM:268100
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Multiple Sulfatase Deficiency	Optic atrophy, Mucopolysacchariduria, Abnormality of retinal pigmentation, Thick eyebrow, Coarse ...	ORPHA:585
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa...	ORPHA:169160
Noonan Syndrome 13	Cafe-au-lait spot, Multiple lentigines, Blue irides	OMIM:619087
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Ataxia-Telangiectasia	Premature graying of hair, Decreased circulating antibody level, Multiple cafe-au-lait spots, Hyp...	ORPHA:100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Micropenis, Pigmentary retinopathy	OMIM:613156
Noonan Syndrome 9	Prolonged prothrombin time, Sparse eyebrow, Hydroureter, Curly hair	OMIM:616559
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair	ORPHA:53271
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Opacification of the corneal stroma, Pigmentary retinopathy, Brushfield spots	OMIM:214110
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Abnormality of the subungual region, Gingival blee...	ORPHA:335
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Central thinning of the outer nu...	OMIM:619649
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Pontocerebellar Hypoplasia, Type 7	Optic atrophy, Hirsutism, Hypopigmentation of the skin, Synophrys, Micropenis	OMIM:614969
Refsum Disease	Nail dysplasia, Abnormality of retinal pigmentation, Renal insufficiency, Retinopathy	ORPHA:773
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoaciduria,...	ORPHA:436271
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Corneal opacity, Choroideremia, Iris hypopigmentation, Cataract, Ocular...	ORPHA:2719
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Jaundice, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Vici Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Cutaneous anergy, Decreased circulating I...	OMIM:242840
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem...	ORPHA:449395
Autoimmune Polyendocrinopathy Type 2	Hypopigmented skin patches, Alopecia	ORPHA:3143
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation	ORPHA:2518
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Mulibrey Nanism	Nephroblastoma, Pigmentary retinopathy, Iris coloboma	OMIM:253250
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism, Optic disc coloboma, Iris coloboma	ORPHA:1553
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Ureterocele, Sparse axillary hair, Urethral stenosis, Sparse eyelashes, Micropeni...	OMIM:604292
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Onychogryposis, Hyperpigmentation of the skin, Decreased circulating antibody lev...	ORPHA:79396
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Patent foramen ovale, Secundum atrial septal defect, Lymphopenia, Ne...	OMIM:614868
Micro Syndrome	Optic atrophy, Hypoplasia of penis, Retinal coloboma, Abnormality of retinal pigmentation, Genera...	ORPHA:2510
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Hypospadias, Curly hair, Cafe-au-lait spot, Decreased circulating IgA...	ORPHA:457485
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega...	OMIM:619644
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Proteus-Like Syndrome	Irregular hyperpigmentation, Heterochromia iridis, Cataract, Limbal dermoid, Abnormal pupil morph...	ORPHA:2969
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Enlarged kidney, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Recurrent ...	OMIM:615873
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasi...	OMIM:274000
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time, Myoglobinuria, Dicarboxylic aciduria, Pigmentary retinopathy	ORPHA:71212
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair	ORPHA:2221
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Hypermelanotic macule, Nail dystrophy, Alopecia of scalp, Alopecia, Freckling, Hypomelanotic macule	OMIM:618373
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Short ribs, Flared il...	OMIM:312870
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Galloway-Mowat Syndrome 1	Optic atrophy, Small nail, Hypopigmentation of the skin, Focal segmental glomerulosclerosis, Hypo...	OMIM:251300
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Hypospadias, Galactosuria, Brittle hair, Generalized hypopigmentation, Decr...	OMIM:222470
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Increased circulating antibody level, Decreased glomerular fil...	ORPHA:91500
Omodysplasia 2	Fibular hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Dislocated radial head, Rhizomel...	OMIM:164745
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph...	OMIM:130650
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn...	ORPHA:791
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoaciduria,...	OMIM:220110
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism, Hematuria, Abnormal localization of kidney	ORPHA:3121
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypopigmented skin patches, Aplastic/hypoplastic toenail, Synophrys, Hypoplasia of penis	ORPHA:1295
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Occipital Horn Syndrome	Abnormal fibula morphology, Humerus varus, Genu valgum, Recurrent urinary tract infections, Large...	ORPHA:198
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Pigmentary retinopathy	ORPHA:3208
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Nephrocalcinosis, Vitiligo, Alopecia universalis, Perifoveal ring of hyperautoflu...	OMIM:240300
Angelman Syndrome	Optic atrophy, Hypopigmentation of the skin, Iris hypopigmentation, Fair hair, Optic disc pallor	ORPHA:72
8Q21.11 Microdeletion Syndrome	Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity	ORPHA:284160
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Sparse scalp hair, Bone marrow hypocellularity, Thromb...	ORPHA:3322
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Freckling	OMIM:278720
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Caffey Disease	Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones	OMIM:114000
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin, Optic neuropathy	OMIM:620237
Bloom Syndrome	Hypopigmentation of the skin, Cafe-au-lait spot, Decreased circulating IgG level, Decreased circu...	OMIM:210900
Syndromic Diarrhea	Trichorrhexis nodosa, Hypopigmentation of hair, Panhypogammaglobulinemia, Brittle hair, Generaliz...	ORPHA:84064
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Thick hair, Long eyelashes, Nephrotic syndrome, Bone marrow hypoc...	ORPHA:505248
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Femoral bowing, Short long bone, Tibial bowing, Bowing of t...	ORPHA:140
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Pericarditis, Bone marrow hypoc...	ORPHA:829
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ...	OMIM:600383
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Hermansky-Pudlak Syndrome 4	Albinism, Ocular albinism	OMIM:614073
Bloom Syndrome	Paronychia, Recurrent urinary tract infections, Decreased circulating antibody level, Hypopigment...	ORPHA:125
Relapsing Fever	Prolonged prothrombin time, Acute kidney injury, Abnormal bleeding, Hematuria, Thrombocytopenia, ...	ORPHA:91547
Mosaic Trisomy 8	Hypopigmented skin patches, Hydronephrosis, Hypopigmentation of the skin, Vesicoureteral reflux	ORPHA:96061
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Agammaglobulinemia, Thrombocytopenia, Alopecia	ORPHA:47
Squalene Synthase Deficiency	Hypospadias, Optic nerve hypoplasia, Elevated urine mesaconic acid level, Abnormality of hair pig...	OMIM:618156
Werner Syndrome	Premature graying of hair, Renal neoplasm, Sparse scalp hair, White forelock, Abnormality of reti...	ORPHA:902
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Ureterocele, Sparse axillary hair, Sparse hair, Sparse eyelashes, Micropenis, Dup...	OMIM:129900
Hepatoerythropoietic Porphyria	Abnormal bleeding, Loss of eyelashes, Red urine, Hyperpigmentation of the skin, Purple urine, Sca...	ORPHA:95159
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia	OMIM:620365
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Multiple cafe-au-lait spots	ORPHA:302
Mucopolysaccharidosis, Type Ii	Dermatan sulfate excretion in urine, Papilledema, Abnormality of retinal pigmentation, Heparan su...	OMIM:309900
Noonan Syndrome 4	Blue irides	OMIM:610733
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity	OMIM:613988
Cohen Syndrome	Optic atrophy, Thick hair, Abnormal eyelash morphology, Long eyelashes, Abnormality of skin pigme...	ORPHA:193
Lowry-Wood Syndrome	Abnormality of nail color, Abnormality of retinal pigmentation	ORPHA:1824
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic ...	OMIM:612541
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ...	OMIM:277450
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Short long bone, Congenital hip dislocation, Renal agenesis, Bilat...	OMIM:306955
Sneddon Syndrome	Bicuspid aortic valve, Lymphopenia	OMIM:182410
Sturge-Weber Syndrome	Corneal dystrophy, Heterochromia iridis, Conjunctival telangiectasia, Abnormal choroid morphology...	ORPHA:3205
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Incontinentia Pigmenti	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal chorioretinal morphology, Hypop...	ORPHA:464
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Autoimmune Polyendocrinopathy Type 1	Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia	ORPHA:3453
Sim1-Related Prader-Willi-Like Syndrome	Micropenis, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Leukocyte Adhesion Deficiency	Abnormal bleeding, Nail dystrophy, Hemolytic-uremic syndrome, Impaired platelet aggregation, Recu...	ORPHA:2968
Kearns-Sayre Syndrome	Renal Fanconi syndrome, Pigmentary retinopathy, Renal tubular acidosis	OMIM:530000
Cousin Syndrome	Fibular aplasia, Rhizomelia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Disloca...	OMIM:260660
Nail-Patella Syndrome	Lester's sign, Antecubital pterygium, Primary congenital glaucoma, Abnormal iris pigmentation	ORPHA:2614
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathioninuria, Neph...	OMIM:277400
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Ogden Syndrome	Enlarged kidney, Clinodactyly of the 5th finger, Sandal gap, Polycystic kidney dysplasia, Congeni...	OMIM:300855
Prader-Willi Syndrome Due To Translocation	Abnormality of the kidney, Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Melena, Menorrhagia, Joint he...	ORPHA:99147
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Opacification of the corneal stroma, Pigmentary retinopathy, Brushfield spots	OMIM:214100
Acquired Purpura Fulminans	Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ...	ORPHA:49566
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Purpura, Glomerulopathy, Hematuria, Proteinuria, Recurrent intrapulmo...	ORPHA:183
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion	ORPHA:1764
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Seckel Syndrome 1	Talipes, Hypospadias, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated ...	OMIM:210600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr...	ORPHA:79259
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Harrod Syndrome	Hypopigmented skin patches, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Koolen-De Vries Syndrome	Cataract, Iris hypopigmentation, Fair hair	OMIM:610443
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Nail dystrophy, Abnormality of the nail, Abnormal fingernail morpholo...	ORPHA:678
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hepatitis, Pericarditis, Bone marrow hypoce...	ORPHA:549
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone marrow hypocellu...	ORPHA:508542
Gapo Syndrome	Hypopigmented skin patches, Optic atrophy, Nephrolithiasis, Sparse eyelashes, Sparse eyebrow, Ear...	ORPHA:2067
Dyskeratosis Congenita	Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Apl...	ORPHA:1775
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:88628
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Pseudohypoparathyroidism Type 1A	Abnormal platelet function, Low urinary cyclic AMP response to PTH administration	ORPHA:79443
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Freckling, Pigmentary retinopathy	OMIM:610651
Eec Syndrome	Nail dystrophy, Renal hypoplasia/aplasia, Hypospadias, Slow-growing hair, Generalized hypopigment...	ORPHA:1896
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Aniridia, Microcornea, Hypoplastic iris ...	ORPHA:233
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Abnormal...	ORPHA:411629
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Abnormal fingernail morphology, Iris coloboma, Alopecia	ORPHA:1647
Cohen Syndrome	Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Thick eyebrow, Ch...	OMIM:216550
Magel2-Related Prader-Willi-Like Syndrome	Micropenis, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398069
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t...	OMIM:620565
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98754
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Mismatch Repair Cancer Syndrome 1	Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling	OMIM:276300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, Pigmentary retinopathy	OMIM:600462
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Dicarboxylic aciduria, Decreased circulating IgG level, 3-hydroxydica...	OMIM:613070
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Hypospadias, Abnormal metacarpal morpho...	ORPHA:90652
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Opacification of the corneal stroma, Pigmentary retinopathy, Brushfield spots	OMIM:614866
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98793
Localized Scleroderma	Hypopigmented skin patches, Abnormality of the kidney, Hyperpigmentation of the skin, Patchy alop...	ORPHA:90289
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Glomerulopathy, Hemolytic-uremic syndrome, Abnormality of macula...	ORPHA:79282
Rothmund-Thomson Syndrome	Nail dysplasia, Small nail, Abnormality of the nail, Hypopigmentation of the skin, Sparse eyelash...	ORPHA:2909
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177904
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177901
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Hydrolethalus Syndrome 1	Hypospadias, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux...	OMIM:236680
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic...	ORPHA:116
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Leprechaunism	Enlarged kidney, Hepatomegaly, Long foot, Long penis, Hypercalciuria, Nephrocalcinosis, Large han...	ORPHA:508
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Abscess, Splenomegaly, Hepatomegaly	OMIM:612852
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor...	OMIM:114290
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Nail-Patella Syndrome	Microphakia, Keratoconus, Microcornea, Antecubital pterygium, Cataract, Lester's sign	OMIM:161200
Psoriasis 14, Pustular	Cholangitis, Neutrophilia, Leukocytosis	OMIM:614204
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Degcags Syndrome	Premature graying of hair, Abnormal renal medulla morphology, Hypospadias, Hypopigmentation of ha...	OMIM:619488
Acrodysostosis 1 With Or Without Hormone Resistance	Blue irides, Melanocytic nevus	OMIM:101800
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Retinal pigment epithelial mottling, Multiple ren...	OMIM:618733
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Baraitser-Winter Cerebrofrontofacial Syndrome	Microcornea, Heterochromia iridis, Iris coloboma	ORPHA:2995
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Hypopigmen...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Hypopigmen...	ORPHA:363958
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Pigmentary retinopathy	OMIM:609015
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Ureteral duplication, Aniridia, Ridged nail, Hypopigmentation of ...	OMIM:305600
Knobloch Syndrome 1	Iris transillumination defect, Band keratopathy, Chorioretinal atrophy, Persistent pupillary memb...	OMIM:267750
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Retinal detachment, Sparse scalp hair, Abnormality of...	ORPHA:394
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia	OMIM:605309
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Proteus Syndrome	Macrodactyly, Enlarged kidney, Sirenomelia, Clinodactyly of the 5th finger, Abnormal metacarpal m...	ORPHA:744
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Leukonychia, Retinal dysplasia, Abnormal hair morphology, Retinal dystrophy, Retin...	ORPHA:2526
Cockayne Syndrome	Dry hair, Optic atrophy, Urinary incontinence, Unilateral renal agenesis, Retinal dystrophy, Neur...	ORPHA:191
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypopigmentation of th...	ORPHA:221008
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Pigmentary retinopathy	OMIM:612582
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
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
Nijmegen Breakage Syndrome	Dysgammaglobulinemia, Recurrent urinary tract infections, Cafe-au-lait spot, Progressive vitiligo...	OMIM:251260
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, 2-3 toe syndactyly, Patent urachus, Micropenis	OMIM:618280
Aceruloplasminemia	Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Proteinuria, Renal insufficiency, Pigmentary retinopathy	ORPHA:90321
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Abetalipoproteinemia	Prolonged prothrombin time, Abnormal bleeding, Abnormality of retinal pigmentation, Hypopigmentat...	ORPHA:14
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Polycystic kidney dysplasia, Thin ribs, Short ribs, Sh...	ORPHA:3404
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Generalized hypopigm...	ORPHA:534
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal renal tubule morphology, Nail d...	ORPHA:2907
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Thick hair, Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Melas	Optic atrophy, Proximal tubulopathy, Focal segmental glomerulosclerosis, Vitiligo, Proteinuria, H...	ORPHA:550
Systemic Sclerosis	Irregular hyperpigmentation, Abnormality of the kidney, Acute kidney injury, Nail bed telangiecta...	ORPHA:90291
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Epispadias, Abnormal vitreous humor morphology, Hypospadias, Retinal ...	ORPHA:2556
Craniorachischisis	Sirenomelia, Bifid sternum	ORPHA:63260
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr...	OMIM:615688
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus	ORPHA:1827
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:739
Cog8-Cdg	Prolonged prothrombin time, Spontaneous hematomas	ORPHA:95428
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Abnormal hair quantity, Multiple cafe-au-lait spo...	ORPHA:636
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypopigmentation of th...	ORPHA:221016
Immunodeficiency 9	Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia	OMIM:612782
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Myopathy, Mitochondrial, And Ataxia	Thick hair, Pigmentary retinopathy	OMIM:617675
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypoplastic fingernail, Hyperconvex fingernails	ORPHA:192
Aicardi Syndrome	Optic atrophy, Retinal detachment, Sparse lateral eyebrow, Abnormality of skin pigmentation, Abno...	ORPHA:50
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Neurogenic bladder, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:96180
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Retinal dystrophy, Generalized hypopigmentation, Optic nerve hypoplasia, Renal hyp...	OMIM:619321
Familial Tumoral Calcinosis	Hypopigmented skin patches, Nephrocalcinosis	ORPHA:53715
Khan-Khan-Katsanis Syndrome	Trichiasis, Ureteral duplication, Highly arched eyebrow, Vesicoureteral reflux, Renal cyst, Renal...	OMIM:618460
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Heterochromia iridis, White forelock, White eyelashes, White eyebrow	OMIM:609136
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir...	ORPHA:790
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni...	OMIM:250250
Hellp Syndrome	Prolonged prothrombin time, Acute kidney injury, Internal hemorrhage, Thrombocytopenia, Hemoglobi...	ORPHA:244242
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautof...	OMIM:209900
Monosomy 13Q34	Prolonged prothrombin time, Horizontal eyebrow, Epistaxis, Hematochezia, Fetal pyelectasis	ORPHA:96168
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Decreased circu...	OMIM:212065
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Purpura, Tubulointerstitial fibrosis, Vitiligo, Hypopigmented skin patches...	OMIM:607944
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Hypopigmentation of hair, Abnormality of hair texture, Vesicou...	ORPHA:96169
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Neuroocular Syndrome	Microcornea, Stellate iris, Lens coloboma, Brushfield spots, Cataract, Peters anomaly, Blue iride...	OMIM:619539
Ebola Hemorrhagic Fever	Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopenia, Hepatitis	ORPHA:319218
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Mosaic Trisomy 20	Abnormality of the kidney, Depigmentation/hyperpigmentation of skin, Horseshoe kidney, Hypopigmen...	ORPHA:1724
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Dark urine, Renal cyst	ORPHA:79303
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Renal hypoplasia, Micrognathia, Mesomeli...	OMIM:619297
Cockayne Syndrome A	Dry hair, Optic atrophy, Renal insufficiency, Retinal atrophy, Abnormality of skin pigmentation, ...	OMIM:216400
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Cerebellar hemorrhage, Dicarboxylic aciduria, Thrombocytopenia	ORPHA:99901
Phace Syndrome	Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma	ORPHA:42775
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Leukopenia, Leukocytosis	ORPHA:36238
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, 3-Methylglutaconic aciduria, Optic atrophy, Chorioretinal hyperpigmen...	OMIM:618329
Mucopolysaccharidosis Type 3	Optic atrophy, Coarse hair, Thick hair, Hirsutism, Pigmentary retinopathy, Synophrys, Mucopolysac...	ORPHA:581
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Short ribs, Tibial bowing, Short metacarpal, Broad thumb, Hyp...	OMIM:304120
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Hepatomegaly, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangea...	OMIM:218330
Infantile Krabbe Disease	Hypopigmented skin patches, Optic atrophy, Cherry red spot of the macula	ORPHA:206436
Tetragametic Chimerism	Hypopigmented skin patches, Perineal hypospadias, Micropenis	ORPHA:199310
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the eye...	ORPHA:2637
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Tuberous Sclerosis 1	Preauricular hair displacement, Subungual fibromas, Renal cell carcinoma, Renal cyst, Cafe-au-lai...	OMIM:191100
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Sparse scalp hair, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:615789
Atypical Werner Syndrome	Premature graying of hair, Renal neoplasm, Abnormal hair morphology, Abnormal hair quantity, Whit...	ORPHA:79474
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Optic atrophy, Generalized aminoaciduria, Pigmentary retinopathy, Con...	ORPHA:404454
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Mucopolysacchariduria, Sparse eyebrow, Abnormality of retin...	ORPHA:175
Cockayne Syndrome B	Dry hair, Optic atrophy, Renal insufficiency, Abnormal hair morphology, Hypoplasia of the iris, A...	OMIM:133540
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro...	ORPHA:3243
Alstrom Syndrome	Pigmentary retinopathy, Cone/cone-rod dystrophy, Nephritis, Attenuation of retinal blood vessels,...	OMIM:203800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hematuria, Hypospadias, Broad eyebrow, Hypopigmentation of the skin, Synophrys, Abnormality of sk...	OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Synophrys	OMIM:301066
Brittle Cornea Syndrome	Retinal detachment, Bruising susceptibility, Abnormality of hair pigmentation	ORPHA:90354
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Classical Ehlers-Danlos Syndrome	Bladder diverticulum, Prolonged bleeding time, Ecchymosis, Bruising susceptibility	ORPHA:287
Hepatoportal Sclerosis	Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia, Abnormal bleeding	ORPHA:64743
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis	OMIM:249100
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Hematochezia	OMIM:214950
Trisomy 18	Abnormality of the upper urinary tract, Abnormal toenail morphology, Abnormality of retinal pigme...	ORPHA:3380
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Idiopathic Hypereosinophilic Syndrome	Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myocardial eosin...	ORPHA:3260
Pearson Syndrome	Hyperpigmentation of the skin, Renal cyst, Cafe-au-lait spot, Bone marrow hypocellularity, Glycos...	ORPHA:699
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Acute kidney injury, Renal tubular epithelial necrosis, Nail dystrophy, Hematuria, Trichiasis, Hy...	ORPHA:95455
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Hepatic steatosis, Atrioventricular canal defe...	OMIM:619573
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Fanconi Anemia	Hypopigmented skin patches, Irregular hyperpigmentation, Renal hypoplasia/aplasia, Hydroureter, H...	ORPHA:84
Xeroderma Pigmentosum	Hypopigmented skin patches, Optic atrophy, Hypermelanotic macule, Melanocytic nevus, Freckling, A...	ORPHA:910
Sarcoidosis	Hyperpigmentation of the skin, Hypercalciuria, Hypopigmentation of the skin, Nephrolithiasis, Nep...	ORPHA:797
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time, Abnormality of hair texture	ORPHA:88618
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Optic atrophy, Multiple glomerular cysts, Rod-cone dystrophy, P...	ORPHA:255210
Alg12-Cdg	Prolonged prothrombin time, Hypospadias, Partial absence of specific antibody response to Haemoph...	ORPHA:79324
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Pigmentary retinopathy	OMIM:614230
X-Linked Intellectual Disability, Nascimento Type	Nail dystrophy, Hypospadias, Vesicoureteral reflux, Lumbar hypertrichosis, Low posterior hairline...	ORPHA:163956
Prader-Willi Syndrome	Generalized hypopigmentation, Frontal upsweep of hair, Micropenis	OMIM:176270
Alagille Syndrome 1	Duplicated collecting system, Renal tubular acidosis, Chorioretinal atrophy, Vesicoureteral reflu...	OMIM:118450
3-Methylglutaconic Aciduria, Type Viib	Prolonged prothrombin time, 3-Methylglutaconic aciduria, Abnormal bleeding, Thrombocytopenia	OMIM:616271
Hermansky-Pudlak Syndrome 10	Albinism, Ocular albinism	OMIM:617050
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
Sialuria	Prolonged prothrombin time	ORPHA:3166
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Abnormality of the pancreas, Lymphopenia	ORPHA:935
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Urinary incontinence, Hyperpigmentation of the skin, Retinal degeneration, Pigment...	OMIM:234200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Charge Syndrome	Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Renal agenesis, Renal hypoplasia, Bilater...	OMIM:214800
Hardikar Syndrome	Hematemesis, Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephros...	OMIM:301068
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time	OMIM:618641
Trisomy 8P	Astigmatism, Heterochromia iridis	ORPHA:264450
Orofaciodigital Syndrome Type 4	Renal hypoplasia/aplasia, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, ...	ORPHA:2753
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymphopenia, Neutropenia	ORPHA:51636
Ramon Syndrome	Optic disc pallor, Hypertrichosis, Pigmentary retinopathy	OMIM:266270
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Thrombocytosis, Decreased circulating IgA level, Alopecia	OMIM:212750
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Patent foramen ovale, Hepatic fibrosis, Portal hypertension, Severe B l...	OMIM:620005
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time	ORPHA:367
Reynolds Syndrome	Hepatomegaly, Jaundice, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia	OMIM:613471
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Kindler Syndrome	Ridged nail, Phimosis, Spotty hyperpigmentation, Urethral stenosis, Spotty hypopigmentation	OMIM:173650
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Urinary incontinence	ORPHA:466768
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Cafe-au-lait spot, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko li...	OMIM:210720
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Chordee, Micropenis, Pigmentary retinopathy, Iris coloboma	OMIM:309801
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Hematochezia	OMIM:613812
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Dermatan sulfate excretion in urine, Retinopathy, Abnormal foveal morphology, Papi...	ORPHA:217085
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Intraventricular hemorrhage, Aminoaciduria	OMIM:619055
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Dermatan sulfate excretion in urine, Retinopathy, Abnormal foveal morphology, Papi...	ORPHA:217093
Williams Syndrome	Corneal opacity, Megalocornea, Posterior embryotoxon, Flat cornea, Cataract, Aplasia/Hypoplasia o...	ORPHA:904
Down Syndrome	Brushfield spots	OMIM:190685
Kasabach-Merritt Phenomenon	Prolonged prothrombin time, Purpura, Petechiae, Thrombocytopenia, Hypertrichosis	ORPHA:2330
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Renal cyst	OMIM:272460
Sotos Syndrome	Abnormality of the kidney, Ureteral duplication, Hypospadias, Hyperpigmentation of the skin, Smal...	ORPHA:821
22Q11.2 Deletion Syndrome	Hypopigmented skin patches, Optic atrophy, Gastrointestinal hemorrhage, Purpura, Hypospadias, Pol...	ORPHA:567
Cowden Syndrome	Hypopigmented skin patches, Abnormality of the kidney, Renal cell carcinoma, Multiple cafe-au-lai...	ORPHA:201
Mucopolysaccharidosis Type 2	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:580
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, 3-Methylglutaric aciduria, Thrombocytosis, Ketonuria	ORPHA:20
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Thrombocytopenia	OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Thrombocytopenia, Reduced natural killer cell activity	OMIM:603553
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Oroticaciduria	OMIM:311250
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Micropenis, Supernumerary nipple	ORPHA:2896
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time, Hydronephrosis	OMIM:614921
Yellow Fever	Prolonged prothrombin time, Hematemesis, Abnormal bleeding, Acute kidney injury, Anuria, Internal...	ORPHA:99829
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Menkes Disease	Spontaneous hematomas, Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Bladde...	ORPHA:565
Isolated Biliary Atresia	Prolonged prothrombin time, Dark yellow urine	ORPHA:30391
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Thrombocytopenia	OMIM:617941
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Coffin-Lowry Syndrome	Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Pes ...	OMIM:303600
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Synophrys, Sparse eyebrow, Patchy hypo- and hyperpigmentation	ORPHA:3063
Crimean-Congo Hemorrhagic Fever	Myocarditis, Hepatomegaly, Jaundice, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocyto...	ORPHA:99827
Mend Syndrome	Crossed fused renal ectopia, Macular hypoplasia, Spotty hypopigmentation	OMIM:300960
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Increased urinary gly...	ORPHA:247598
Lipodystrophy, Familial Partial, Type 7	Polyuria, Sparse scalp hair, Pigmentary retinopathy, Sparse hair	OMIM:606721
Smith-Lemli-Opitz Syndrome	Optic atrophy, Renal hypoplasia/aplasia, Hypospadias, Hypopigmentation of hair, Hypoplasia of pen...	ORPHA:818
Pallister-Killian Syndrome	Hypospadias, Sparse anterior scalp hair, Hypopigmentation of the skin, Sparse scalp hair, Renal c...	OMIM:601803
Williams-Beuren Syndrome	Premature graying of hair, Blue irides	OMIM:194050
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Abnormal bleeding, Increased circulating antibody level, Petechiae, I...	ORPHA:99826
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Hypospadias, Optic disc hypoplasia, Dilatation of renal calices, Recurrent urinary...	ORPHA:3455
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Hip subluxation, Hypospadias, Vesicoureteral reflux, Micrognathia, Hypoplasia...	ORPHA:444077
Acute Liver Failure	Prolonged prothrombin time, Acute kidney injury, Gastrointestinal hemorrhage, Abnormal bleeding, ...	ORPHA:90062
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Microscopic hematuria, Thrombocytopenia, Membranoproliferative glomer...	OMIM:619525
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Polyclonal elevation of IgM, Renal insufficiency	ORPHA:171
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time	ORPHA:309854
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
1P36 Deletion Syndrome	Cataract, Ocular albinism	ORPHA:1606

Histopathology

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

There is no histopathology data for Vps33a

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vps33a.

No publications found that use IMPC mice or data for Vps33a.

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
Vps33a^{tm210940(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vps33a^em2(IMPC)Tcp	Exon Deletion	Mice, Tissue
Vps33a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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