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Gene: Hps5 MGI:2180307

Gene Summary

Name:

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

Synonyms:

ruby eye 2, ru-2, Hermansky-Pudlak syndrome 5, ru2

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
increased vertical activity	Hps5^em1(IMPC)J	HOM	Early adult	9.67×10^-05
abnormal iris pigmentation	Hps5^em1(IMPC)J	HOM	Early adult	1.52×10^-20
abnormal iris transillumination	Hps5^em1(IMPC)J	HOM	Early adult	4.26×10^-05
hyperactivity	Hps5^em1(IMPC)J	HOM	Early adult	3.84×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Eye Morphology

Images Slit Lamp

23 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Electroretinography 3

Fundus file

16 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Electrocardiogram (ECG)

Waveform Image

18 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Hps5 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 Hps5 (1 diseases)
Human diseases predicted to be associated with Hps5 (1063 diseases)

The table below shows human diseases associated to Hps5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 5		Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074

The table below shows human diseases predicted to be associated to Hps5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Book Syndrome	Premature graying of hair	OMIM:112300
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Schizophrenia 15	Hyperactivity	OMIM:613950
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Recurrent bacterial infections, Mel...	OMIM:607624
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism	ORPHA:90023
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i...	OMIM:155100
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Chorioretinal degeneration	OMIM:616311
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Deafness, Congenital, With Total Albinism	Hearing impairment, Albinism	OMIM:220900
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Hearing impairment	OMIM:300719
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Liberfarb Syndrome	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ...	OMIM:618889
Phenylketonuria	Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici...	OMIM:261600
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut...	OMIM:615516
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su...	OMIM:601399
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Hearing impairment	OMIM:172850
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Hypopigmentation of the skin	OMIM:610798
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphagia, Inappropriate laug...	ORPHA:411515
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali...	ORPHA:170
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme...	OMIM:601706
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin...	OMIM:277580
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ...	ORPHA:182050
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Gemignani Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:2074
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse ha...	OMIM:275400
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Hematuria, Benign Familial, 1	Hematuria, Thin glomerular basement membrane	OMIM:141200
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg...	OMIM:614076
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Usher Syndrome Type 3	Cataract, Ataxia, Astigmatism, Iris hypopigmentation	ORPHA:231183
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow, Hearing impairment	ORPHA:2222
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Griscelli Syndrome Type 1	Partial albinism, Ataxia, White hair, Premature graying of hair, Iris hypopigmentation	ORPHA:79476
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Phenylketonuria	Aminoaciduria	ORPHA:716
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hyperlysinemia, Type I	Hyperactivity, Ectopia lentis	OMIM:238700
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iris hypopigmentation	ORPHA:177910
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Cafe-au-lait spot	ORPHA:436151
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Eem Syndrome	Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Macular dystrophy, Retino...	ORPHA:1897
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Protruding ear, Fingernail d...	ORPHA:2251
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Neuroectodermal Melanolysosomal Disease	Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Premat...	ORPHA:33445
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,...	ORPHA:411527
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Abnormal morphology o...	ORPHA:352731
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Usher Syndrome Type 1	Cataract, Ataxia, Iris hypopigmentation	ORPHA:231169
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Beau's lines, Leukonychia	OMIM:234580
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse scalp hair, Sparse eyebrow, Recurrent infections, Abnormality of skin pigmentation, Nail d...	OMIM:225050
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, G...	ORPHA:411511
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:614075
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor...	OMIM:619927
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Sparse hair	ORPHA:1264
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl...	ORPHA:54
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Retinitis Pigmentosa 46	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:612572
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Deafness-Vitiligo-Achalasia Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:3239
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Retinal degeneration	ORPHA:3363
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Cataract	ORPHA:85288
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I...	ORPHA:3226
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior	OMIM:248510
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Tong...	ORPHA:98794
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Morm Syndrome	Hyperactivity, Cataract, Aggressive behavior	ORPHA:75858
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz...	ORPHA:1816
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Riboflavin Transporter Deficiency	Ataxia, Dysphagia, Aggressive behavior, Iris hypopigmentation	ORPHA:97229
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm...	ORPHA:98795
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst	OMIM:620086
Hartnup Disorder	Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Obesity And Hypopigmentation	Red hair	OMIM:620195
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hyperactivity, Fair hair, Blue irides	OMIM:614613
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Alopecia, Hypopigmentation of hair, Persistent pupillary membrane	ORPHA:1067
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Specific Granule Deficiency 2	Abnormal pinna morphology, Posteriorly rotated ears, Recurrent pneumonia, Sepsis, Recurrent bacte...	OMIM:617475
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Free Sialic Acid Storage Disease	Ataxia, Abnormality of skin pigmentation, Athetosis, Gait disturbance, Iris hypopigmentation	ORPHA:834
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre...	OMIM:613493
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Idiopathic Hypercalciuria	Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r...	ORPHA:2197
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Tonne-Kalscheuer Syndrome	Broad-based gait, Aggressive behavior, Blue irides, Self-injurious behavior, Dysphagia	OMIM:300978
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Abnormality of the pulmo...	ORPHA:90308
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow	OMIM:617121
Waardenburg Syndrome, Type 3	Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel...	OMIM:148820
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Fair hair, Hypopig...	OMIM:105830
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections, High-frequency hearing impairment	OMIM:300455
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti	ORPHA:1573
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Macular degeneration, Optic atrophy	OMIM:164500
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Angelman Syndrome	Keratoconus, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to walk, Ton...	ORPHA:72
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Pancreatic Cancer	Increased level of L-fucose in urine	OMIM:260350
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom...	ORPHA:1390
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Recurrent bacterial infections, Sensorineural hearing impairment	OMIM:610738
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto...	OMIM:153670
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Generalized hyperpigmentation, Retinop...	ORPHA:816
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Cryptorchidism	ORPHA:638
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Immunodeficiency 7	Recurrent respiratory infections, Severe varicella zoster infection, Persistent EBV viremia, Patc...	OMIM:615387
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism, Recurrent respiratory infections	ORPHA:352723
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair	OMIM:619172
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613502
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Unsteady gait, Blue irides, Dysmetria, Cafe-au-lait spot, Self-mutilation	ORPHA:3041
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Ramon Syndrome	Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte...	OMIM:620141
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,...	ORPHA:1807
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation	ORPHA:2720
Usher Syndrome Type 2	Cataract, Ataxia, Iris hypopigmentation	ORPHA:231178
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:240500
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Posteriorly rotated ears, Albinism, Recurrent pneumonia, Ocular a...	OMIM:608233
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections	OMIM:193670
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Macrotia, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis	OMIM:612692
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera...	ORPHA:69087
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior	ORPHA:382
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Griscelli Syndrome	Ataxia, Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Iris...	ORPHA:381
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma	ORPHA:1791
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu...	ORPHA:98813
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat...	OMIM:614077
Noonan Syndrome 13	Aggressive behavior, Blue irides, Head-banging, Multiple lentigines, Attention deficit hyperactiv...	OMIM:619087
Spondylo-Ocular Syndrome	Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Attention deficit hy...	ORPHA:3205
Infantile Sialic Acid Storage Disease	Fair hair, Hypopigmentation of the skin	OMIM:269920
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Iris transillumination defect, Cataract, Generalized hypopigmentation	OMIM:617306
Lennox-Gastaut Syndrome	Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re...	OMIM:193220
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Dysphagia	OMIM:300858
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f...	ORPHA:83471
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba...	OMIM:243700
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Recurrent systemic pyogenic infect...	OMIM:214500
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple	ORPHA:1173
Al-Raqad Syndrome	Hypopigmentation of the skin, Low-set ears	OMIM:616459
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:525
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail	ORPHA:2584
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
Immunodeficiency, Common Variable, 1	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:607594
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroide...	ORPHA:2719
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h...	OMIM:301000
Immunodeficiency 10	Recurrent bacterial infections, Nail dysplasia, Recurrent infections	OMIM:612783
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Retinitis Pigmentosa 74	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo	ORPHA:101003
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Ataxia-Telangiectasia	Premature graying of hair, Recurrent respiratory infections, Hypopigmentation of hair, Multiple c...	ORPHA:100
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo...	ORPHA:276
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Facial Spasm	Anisocoria	OMIM:134300
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy...	ORPHA:1867
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida...	ORPHA:572
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613496
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Recurrent opportunistic infections, Nail dystrophy	OMIM:613987
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Abnormality of skin pigmentation, Hyperactivity, Broad-based gait, Aggressive behavior	ORPHA:457260
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,...	ORPHA:809
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio...	ORPHA:911
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu...	ORPHA:79430
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Localized Epidermolysis Bullosa Simplex	Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin...	ORPHA:53271
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f...	OMIM:193500
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Acquired Purpura Fulminans	Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb...	ORPHA:49566
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph...	OMIM:609033
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches	ORPHA:1784
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Atherosclerosis	OMIM:610842
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia	ORPHA:500180
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur...	OMIM:147060
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec...	ORPHA:169090
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot...	ORPHA:912
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Chromomycosis	Recurrent bacterial infections, Hypopigmented skin patches	ORPHA:182
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S...	ORPHA:3077
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Abnormal fingernail morphology, Fine hair, Abnormality of skin ...	ORPHA:1806
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma	OMIM:214110
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Abnormal repetitive mannerisms, Head-banging, Attention deficit hyperac...	ORPHA:177907
Norrie Disease	Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ...	OMIM:310600
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Irregular hyperpigmentation, Meningitis, Sensorineural hearing im...	ORPHA:36412
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Hypertrichosis	OMIM:256000
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Familial Dysautonomia	Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro...	ORPHA:1764
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Bulimia, Polyphagia, Self-injurious behavior, Abnormal temper tantrums,...	ORPHA:98793
Cln3 Disease	Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy, Hirsutism	ORPHA:228346
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Recurrent bacterial skin infection...	ORPHA:167
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentation, Heterochromia i...	ORPHA:2969
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Bulimia, Polyphagia, Self-injurious behavior, Abnormal temper tantrums,...	ORPHA:177904
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Bulimia, Polyphagia, Self-injurious behavior, Abnormal temper tantrums,...	ORPHA:177901
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Koolen-De Vries Syndrome	Hyperactivity, Cataract, Impulsivity, Fair hair, Iris hypopigmentation	OMIM:610443
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Low pos...	ORPHA:221139
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,...	ORPHA:331235
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Bulimia, Polyphagia, Self-injurious behavior, Abnormal temper tantrums,...	ORPHA:98754
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility, Aortic aneurysm, Cryptorchidism	OMIM:613075
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ...	OMIM:606367
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Recurrent...	ORPHA:183675
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Brushfield spots, Unsteady gait, Pigmentary retinopathy, Opacification of the corneal s...	OMIM:214100
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation	ORPHA:290
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged...	ORPHA:91547
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre...	ORPHA:486
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Aplasia of the eccrine sweat gl...	OMIM:300291
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Vici Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Recurrent viral infections, Albinism,...	OMIM:242840
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu...	OMIM:116920
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr...	ORPHA:99147
Vici Syndrome	Abnormality of retinal pigmentation, Recurrent respiratory infections, Sensorineural hearing impa...	ORPHA:1493
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Prader-Willi Syndrome	Hypopigmentation of hair, Polyphagia, Self-injurious behavior, Attention deficit hyperactivity di...	OMIM:176270
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Low anterior hairline, White...	ORPHA:742
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Sensorineural hearing impairment	OMIM:619693
Nail-Patella Syndrome	Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Tip-toe gait, Les...	ORPHA:2614
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	ORPHA:216866
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in...	ORPHA:51636
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Hyperpigmentation of the skin	ORPHA:2176
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Highly arched eyebrow	OMIM:608629
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233710
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Internal hemorrhage, Splenic rupture, Prolonged pro...	ORPHA:335
Noonan Syndrome 4	Blue irides	OMIM:610733
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Dysphagia, Aggressive behavior	ORPHA:289483
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration	ORPHA:79264
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Coarse hair, Optic atrophy, Thick eyebrow	ORPHA:585
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn...	OMIM:256800
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism	OMIM:614073
Omenn Syndrome	Recurrent bacterial infections, Alopecia, Recurrent fungal infections, Recurrent viral infections	OMIM:603554
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:601495
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec...	OMIM:616005
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ...	OMIM:300860
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma	OMIM:253250
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le...	ORPHA:64743
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent bacterial infections, Recurrent viral infections	OMIM:618048
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ...	ORPHA:233
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Hypopigmentation of the skin	OMIM:236200
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology	OMIM:614227
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection...	OMIM:613179
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Pigmentary retinopathy, Generalized hirsutism	ORPHA:110
Immunodeficiency 21	Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in...	OMIM:614172
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections	OMIM:603585
Immunodeficiency 12	Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf...	OMIM:615468
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy, Nail dysplasia	ORPHA:773
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Pigmentary retinopathy, Athetosis, Opacification of the corneal stroma	OMIM:614866
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, At...	ORPHA:636
Knobloch Syndrome 1	Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination d...	OMIM:267750
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ...	ORPHA:79396
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra...	OMIM:308230
Coats Disease	Leukocoria	OMIM:300216
Squalene Synthase Deficiency	Macrotia, Posteriorly rotated ears, Abnormality of hair pigmentation, Low-set ears	OMIM:618156
Mannosidosis, Alpha B, Lysosomal	Sensorineural hearing impairment, Low anterior hairline, Recurrent bacterial infections, Macrotia...	OMIM:248500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren...	ORPHA:331206
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath...	ORPHA:2330
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Werner Syndrome	Abnormality of retinal pigmentation, Sparse scalp hair, Abnormal hair whorl, Premature graying of...	ORPHA:902
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Generalized hirsutism	ORPHA:2510
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho...	ORPHA:193
Pontocerebellar Hypoplasia, Type 7	Synophrys, Hypopigmentation of the skin, Hirsutism	OMIM:614969
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy...	ORPHA:678
Crouzon Syndrome	Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin	OMIM:163200
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Pigmentary retinopathy, Perifoveal ring of hyperautofluorescence, Nail dystrophy, Alope...	OMIM:240300
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Neuroocular Syndrome	Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Attention deficit hyperactiv...	OMIM:619539
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Breast hypoplasia	ORPHA:2235
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Histidinemia	Hyperactivity	ORPHA:2157
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Ataxia, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chambe...	ORPHA:2479
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:101330
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Mosaic Trisomy 8	Abnormal pinna morphology, Hypopigmented skin patches, Protruding ear, Abnormal antihelix morphol...	ORPHA:96061
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Acrodysostosis 1 With Or Without Hormone Resistance	Blue irides, Melanocytic nevus	OMIM:101800
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t...	OMIM:263700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premature graying of hair, Heteroch...	ORPHA:163746
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl...	OMIM:613154
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Posteriorly rotated ears, Low-set ears	OMIM:241410
Intellectual Developmental Disorder, Autosomal Recessive 78	Sensorineural hearing impairment, Hypopigmentation of the skin	OMIM:620237
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Baraitser-Winter Cerebrofrontofacial Syndrome	Microcornea, Heterochromia iridis, Iris coloboma	ORPHA:2995
Adult Syndrome	Sparse scalp hair, Absent nipple, Sparse axillary hair, Nail pits, Alopecia of scalp, Hypoplastic...	OMIM:103285
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Distichiasis	OMIM:600462
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, White forelock, Heterochromia...	OMIM:609136
Pgm3-Cdg	Recurrent respiratory infections, Mild neurosensory hearing impairment, Recurrent viral infection...	ORPHA:443811
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy	OMIM:222300
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin	OMIM:276300
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail...	ORPHA:2909
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo...	ORPHA:244242
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Noonan Syndrome 9	Cryptorchidism, Prolonged prothrombin time, Coarctation of aorta	OMIM:616559
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Pigmentary retinopathy, Optic atrophy, Optic disc pallor	OMIM:617282
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorior...	ORPHA:2526
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:306400
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Bloom Syndrome	Cafe-au-lait spot, Hypopigmentation of the skin, Spotty hypopigmentation, Hypertrichosis	OMIM:210900
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Retinoblastoma	Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis	ORPHA:790
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Papilledema, Hypertrichosis	OMIM:309900
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Woolly hair, Recurrent infections, Uncombable hair, Gener...	ORPHA:84064
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Thick hair, Optic disc pallor	ORPHA:502423
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypopigmentation, Cafe...	OMIM:222470
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair	OMIM:612582
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time	ORPHA:99901
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, H...	OMIM:603553
Aceruloplasminemia	Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration	ORPHA:48818
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches	ORPHA:47
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ...	ORPHA:221008
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Thick hair	OMIM:617675
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Sensorineu...	OMIM:612541
Incontinentia Pigmenti	Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Supernumerary nipple, Abnormal ...	ORPHA:464
Mirage Syndrome	Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis	OMIM:617053
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Conductive hearing impair...	ORPHA:244
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypopigmentation of hair, Retinal ...	OMIM:219800
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:1647
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:617941
Coffin-Lowry Syndrome	Hyperconvex fingernails, Abnormality of retinal pigmentation, Optic atrophy, Hypoplastic fingernail	ORPHA:192
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ...	ORPHA:221016
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Cataract, Abnormality iris morphology	ORPHA:370959
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Neutropenia, Thrombocytopenia	OMIM:616271
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Alopecia	OMIM:203800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent bac...	OMIM:102700
Ramon Syndrome	Pigmentary retinopathy, Optic disc pallor, Hypertrichosis	OMIM:266270
Hermansky-Pudlak Syndrome 10	Ocular albinism, Albinism	OMIM:617050
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn...	ORPHA:1775
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy, Sparse scalp hair	ORPHA:394
Aicardi Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Williams Syndrome	Flat cornea, Corneal opacity, Cataract, Ataxia, Blue irides, Dysmetria, Aplasia/Hypoplasia of the...	ORPHA:904
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o...	ORPHA:90289
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:95159
Bloom Syndrome	Sparse eyelashes, Paronychia, Patchy alopecia, Cafe-au-lait spot, Hypopigmentation of the skin	ORPHA:125
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Recurrent bacterial infections, Nail dystrophy	OMIM:615895
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Chorioretinal lacunae	OMIM:618733
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Cryptorchidism, Interrupted...	OMIM:618280
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, Macrocytic anemia	OMIM:212750
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Postinfectious Vasculitis	Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf...	ORPHA:48435
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized...	ORPHA:1896
Harrod Syndrome	Hypopigmented skin patches	ORPHA:2115
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:604292
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Trisomy 8P	Astigmatism, Heterochromia iridis	ORPHA:264450
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair	OMIM:252500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Optic atrophy, Long eyelashes, Hypertrichosis	ORPHA:505248
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation	OMIM:615789
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ...	ORPHA:2637
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ...	OMIM:209900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Alopecia, Absent eyebrow, Thin fingernail, Abnormal eyelash mor...	ORPHA:2273
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Neurodegeneration With Brain Iron Accumulation 1	Motor tics, Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Pigmentary retinopathy...	OMIM:234200
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo...	OMIM:619488
Down Syndrome	Brushfield spots	OMIM:190685
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Coarctation of aorta	OMIM:614300
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time	OMIM:618641
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo	ORPHA:363958
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ...	ORPHA:79474
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Hypopigmentation of the skin	OMIM:301066
Immunodeficiency 47	Recurrent bacterial infections, Sensorineural hearing impairment, Recurrent infections	OMIM:300972
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair	ORPHA:1974
Mucopolysaccharidosis Type 3	Thick hair, Synophrys, Optic atrophy, Hirsutism, Pigmentary retinopathy, Coarse hair, Rod-cone dy...	ORPHA:581
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment...	OMIM:305600
Cockayne Syndrome Type 1	Pigmentary retinopathy, Optic atrophy, Hypermelanotic macule	ORPHA:90321
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Abnormal eyelash...	ORPHA:2556
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Classical Ehlers-Danlos Syndrome	Ecchymosis, Aortic root aneurysm, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Sialuria	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:3166
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia	ORPHA:20
Trisomy 18	Abnormality of retinal pigmentation, Abnormal toenail morphology, Iris coloboma	ORPHA:3380
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Splenomegaly, Prolonged prothrombin time	OMIM:613812
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Dry h...	ORPHA:191
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Persistent EBV viremia, Severe cytomegalovirus infection, Rec...	OMIM:619573
Williams-Beuren Syndrome	Blue irides, Premature graying of hair, Gait imbalance, Attention deficit hyperactivity disorder,...	OMIM:194050
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:79277
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thick eyebrow, Synophrys, Melanocytic nevus, Abnormality of skin pigmentation, Hypopigmentation o...	OMIM:619475
Melas	Pigmentary retinopathy, Optic atrophy, Hypertrichosis, Vitiligo	ORPHA:550
Cartilage-Hair Hypoplasia	Sparse hair, Abnormality of retinal pigmentation, Sparse eyebrow	ORPHA:175
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret...	ORPHA:79282
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Recurrent staphylococcal infections, BCGosis, Recurrent tonsi...	ORPHA:2968
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Cockayne Syndrome A	Dry hair, Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Abnormality of ski...	OMIM:216400
Shwachman-Diamond Syndrome	Recurrent bacterial infections, Sepsis, Hearing impairment, Recurrent viral infections	ORPHA:811
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ...	ORPHA:2907
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Papilledema, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Cockayne Syndrome B	Dry hair, Abnormal hair morphology, Optic atrophy, Abnormality of skin pigmentation, Hypoplasia o...	OMIM:133540
Oculodentodigital Dysplasia	Cataract, Ataxia, Abnormality iris morphology, Microcornea, Gait disturbance	ORPHA:2710
Xeroderma Pigmentosum	Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Freckling	ORPHA:910
Glycogen Storage Disease Ib	Recurrent bacterial infections	OMIM:232220
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Trichiasis, Highly arched eyebrow	OMIM:618460
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Prolonged prothrombin time	OMIM:212065
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:580
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Cryptorchidism, Prolonged prothrombin time, B lymph...	ORPHA:79324
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation	ORPHA:466768
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Generalized hyperpigmentati...	ORPHA:744
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo	OMIM:251260
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Prolonged prothrombin time, Coarctation of aorta	OMIM:614921
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
1P36 Deletion Syndrome	Cataract, Ocular albinism, Polyphagia, Self-injurious behavior, Gait disturbance, Dysphagia, Abno...	ORPHA:1606
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po...	ORPHA:163956
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Marburg Hemorrhagic Fever	Abnormal bleeding, Reticulocytosis, Lymphopenia, Excessive bleeding after a venipuncture, Thrombo...	ORPHA:99826
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Iris coloboma	OMIM:309801
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h...	OMIM:210720
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic atrophy, Optic disc pallor	ORPHA:404454
Spondyloenchondrodysplasia With Immune Dysregulation	Hypopigmented skin patches on arms, Hypermelanotic macule, Vitiligo	OMIM:607944
Liver Failure, Infantile, Transient	Prolonged prothrombin time	OMIM:613070
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia	OMIM:276700
Yellow Fever	Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos...	ORPHA:99829
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Monosomy 13Q34	Hematochezia, Prolonged prothrombin time, Epistaxis	ORPHA:96168
Kindler Syndrome	Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:173650
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Prolonged prothrombin time, Polycythemia	ORPHA:309854
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:95455
Oculocerebrorenal Syndrome Of Lowe	Generalized hypopigmentation, Sparse scalp hair, Fine hair	ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Recurrent bacterial infections	ORPHA:79259
Systemic Sclerosis	Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation, Nail bed telangiectasia	ORPHA:90291
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Generalized hypopigmentation, Alopecia	OMIM:619321
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time	ORPHA:88618
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Prolonged prothrombin time, A...	ORPHA:247598
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Supernumerary nipple	ORPHA:2896
Sarcoidosis	Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:797
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti...	ORPHA:90062
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr...	OMIM:619525
Pearson Syndrome	Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin	ORPHA:699
Lysinuric Protein Intolerance	Recurrent bacterial infections	ORPHA:470
Isolated Biliary Atresia	Splenomegaly, Prolonged prothrombin time	ORPHA:30391
Fanconi Anemia	Multiple cafe-au-lait spots, Abnormality of skin pigmentation, Irregular hyperpigmentation, Hypop...	ORPHA:84
Cowden Syndrome	Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus	ORPHA:201
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time	OMIM:618329
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections	ORPHA:171
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Pigmentary retinopathy, Sparse scalp hair	OMIM:606721
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair	ORPHA:818
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation	ORPHA:3063
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Sotos Syndrome	Sparse anterior scalp hair, Small nail, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:821
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Optic disc hypoplasia, Synophrys, Optic atrophy, Pigmentary retinopathy, Spars...	ORPHA:3455
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
22Q11.2 Deletion Syndrome	Hypopigmented skin patches	ORPHA:567
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time	OMIM:311250
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
Mend Syndrome	Spotty hypopigmentation	OMIM:300960
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections	ORPHA:642

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 Hps5

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 Hps5.

No publications found that use IMPC mice or data for Hps5.

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

MGI Allele	Allele Type	Produced
Hps5^em1(IMPC)J	Exon Deletion	Mice
Hps5^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hps5^{tm1e(EUCOMM)Wtsi}	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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Gene: Hps5 MGI:2180307

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

X-ray

Electroretinography 3

X-ray

X-ray

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Hps5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data