Gene: Ap3b1 MGI:1333879

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
adaptor-related protein complex 3, beta 1 subunit
Synonyms:
rim2,  recombination induced mutation 2,  Hps2,  beta3A,  AP-3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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.

Phenotype associated images not available

Human diseases caused by Ap3b1 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.

The table below shows human diseases associated to Ap3b1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Photophobia, Pulmonary fibrosis, Reduced natural ki... OMIM:608233

The table below shows human diseases predicted to be associated to Ap3b1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
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
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Book Syndrome
Premature graying of hair OMIM:112300
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Secondary amenorrhea, Clitoral hypertrophy, Gonadal... OMIM:612964
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Hearing impairment OMIM:300719
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Recurrent bronchopulmonary infections ORPHA:90023
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorr... OMIM:612310
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Premature Ovarian Failure 18
Irregular menstruation, Hypoplasia of the uterus, Secondary amenorrhea, Hypoplasia of the ovary, ... OMIM:619203
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Bilateral sensorineural hearing impairment, Generalized hypopigme... OMIM:103500
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Deafness, Congenital, With Total Albinism
Hearing impairment, Albinism OMIM:220900
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Abnormal vagina morphology, Gonadoblastoma, Hypoplasia of the ute... ORPHA:168563
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... OMIM:227010
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypogonadism, Decr... OMIM:614841
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:613265
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Discrete 2 to 5-mm hy... OMIM:131960
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Impaired collagen-induced platelet aggregation, Fai... OMIM:619172
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Hermansky-Pudlak Syndrome 6
Albinism, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Ocular albinism, Ma... OMIM:614075
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidney OMIM:601076
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Hearing impairment, Thick eyebrow, Generalized hirsutism ORPHA:2222
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Albinism, Ocular albinism OMIM:614076
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Albinism, Prolonged bleeding time, Ocular albinism, Epistaxis, Thrombocytopeni... OMIM:614074
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Satoyoshi Syndrome
Mildly elevated creatine kinase, Hypoplasia of the uterus, Amenorrhea OMIM:600705
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Generalized hirsutism ORPHA:2297
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Perrault Syndrome 4
Oligomenorrhea, Hypoplasia of the uterus, Primary amenorrhea, Bicornuate uterus, Secondary amenor... OMIM:615300
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time, Giant platelets OMIM:608404
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Alopecia of scalp, Axillary and groin hyperpigmentation and ... ORPHA:69125
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Numerous pigmented f... OMIM:601706
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the skin OMIM:614171
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Hypopigmentation of the skin OMIM:610798
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly, Absent testis, Vanishing t... ORPHA:325124
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Hirsutism, Epistaxis, Thrombocytopeni... OMIM:314050
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Abnormal toenail ... ORPHA:89838
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Primary amenorrhea, Abnormal internal genitalia, Gona... OMIM:273250
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Hearing impairment, Se... ORPHA:895
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Abnormal hair morphology OMIM:113750
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Neutropen... ORPHA:238459
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Decrea... ORPHA:2585
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract ORPHA:2253
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:79455
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypoplasia of the uterus, Hypopl... ORPHA:3130
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin OMIM:302000
Myh9-Related Disease
Prolonged bleeding time, Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Congeni... ORPHA:182050
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Exotropia, Reduced visual acuity, Esotropia, My... OMIM:614077
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia, Ectopic kidney ORPHA:2578
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Hematuria, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:153640
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Non-obstructive azoospermia, Hypoplasia of the ut... ORPHA:432
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Leigh Syndrome With Cardiomyopathy
Basal ganglia gliosis, Cardiac conduction abnormality, Limited extraocular movements, Neuronal lo... ORPHA:70474
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Photophobia, Pulmonary fibrosis, Reduced natural ki... OMIM:608233
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Vesicoureteral reflux,... OMIM:617805
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Adult onset sensorineural hearing impairment, Giant melanosomes in melanocytes, Albinism OMIM:300650
Hydatidiform Mole
Enlarged uterus, Spontaneous abortion, Menometrorrhagia ORPHA:99927
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:277580
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia, Generalized hypopigmentation OMIM:257790
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Hypoplas... OMIM:202010
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Deafness-Lymphedema-Leukemia Syndrome
Visual loss, Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Bruising susceptibil... ORPHA:3226
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Essential Thrombocythemia
Prolonged bleeding time, Myocardial infarction, Amaurosis fugax, Transient ischemic attack, Splen... ORPHA:3318
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:609441
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Hermansky-Pudlak Syndrome 1
Freckling, Albinism, Prolonged bleeding time, Freckles in sun-exposed areas, Abnormal hair morpho... OMIM:203300
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Decreased fertility in females, Ambiguous genitalia, male, Hypergonadotropic hypo... ORPHA:90796
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea ORPHA:785
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Epidermolysis Bullosa Acquisita
Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphology ORPHA:46487
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Ridged fingernail, Fingernail dysplasia, Hyperpigmenta... ORPHA:2251
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Heparin-Induced Thrombocytopenia
Autoimmune thrombocytopenia, Increased serum serotonin, Myocardial infarction, Pulmonary embolism... ORPHA:3325
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Spotty hypopigmentation, Sparse lateral eye... ORPHA:79133
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Hypoplasia of the uterus, Female infertility, Premature ovari... OMIM:110100
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:2138
Prothrombin Deficiency, Congenital
Ecchymosis, Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Me... OMIM:613679
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Neutropenia, Aminoaciduria, Macrothrombocytopenia, Th... OMIM:603585
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Hematuria, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemo... ORPHA:90308
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Multiple cafe-au-lait spots ORPHA:638
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Hydrocolpos, Dyspareunia, Metrorrhagia, Abnormality of the uterine cervix... ORPHA:3411
Porphyria Cutanea Tarda
Onycholysis, Hyperpigmentation in sun-exposed areas, Alopecia, Facial hypertrichosis OMIM:176100
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Microphthalmia, Isolated 3
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Anonychia, Scarring alopecia of scalp, Sparse body hair, Nail d... ORPHA:79402
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Horizontal supranuclear gaze palsy, Fusion of the left and right thalami, Abnormality of the ante... OMIM:617542
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Visual loss, Type II lissencephaly, Hypoplasia of the corpus callosu... ORPHA:300570
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... ORPHA:158681
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hyperpigmentation of the skin, Splenomegaly, Hypopigmen... ORPHA:158029
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Neonatal respiratory distress, Aspiratio... OMIM:619057
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Fanconi Anemia, Complementation Group G
Neutropenia, Thrombocytopenia, Microphthalmia, Anemia, Multiple cafe-au-lait spots, Leukemia OMIM:614082
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Int... ORPHA:98879
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Mottled pigmentation OMIM:616108
Hypotrichosis With Juvenile Macular Degeneration
Freckling, Melanocytic nevus, Sparse scalp hair, Brittle hair, Fine hair, Pili torti ORPHA:1573
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Decreased numbers of nephrons, Renal hypoplasia, Hypoplasia of the uterus... OMIM:137920
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation OMIM:268040
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decrea... OMIM:619072
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Nail dysplasia, Sparse scalp hair, Recurrent infections, Sparse... OMIM:225050
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle ... OMIM:104100
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo... ORPHA:1816
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dysplasia, Nail dystrophy OMIM:613988
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, Hearing impairment, Whi... ORPHA:2884
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormality of thalamus morphology, Abnormal visual fixa... ORPHA:88619
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina, Ectopic kidney, Aplasia of... ORPHA:3109
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Hypog... OMIM:241080
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Pneumonia, Abnormal delayed hypersensitivi... OMIM:600903
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Japanese Encephalitis
Abnormality of thalamus morphology, Increased circulating IgM level, Focal T2 hyperintense thalam... ORPHA:79139
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal saccadic eye movements, Azoospermia, Leukoencephalop... OMIM:613724
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Proteinuria, Primary amenorrhea, Septate vagina, Distal renal tubular acidosis, Proxim... OMIM:146255
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Se... ORPHA:999
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Secondary amenorrhea, Gonadal... ORPHA:243
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Focal T2 hyperintense basal ganglia lesion, Visual loss, Focal T2 hyperintense thalamic le... ORPHA:79264
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Ravine Syndrome
Apnea, Abnormality of the larynx, Abnormality of eye movement, Abnormality of the basal ganglia, ... ORPHA:99852
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Progressive vitiligo OMIM:277465
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Microphthalmia, Syndromic 9
Cryptorchidism, Horseshoe kidney, Renal hypoplasia, Hypoplasia of the uterus, Bicornuate uterus, ... OMIM:601186
Darier Disease
Abnormality of skin pigmentation, Abnormality of the nail, Abnormal hair morphology, Subungual hy... ORPHA:218
Pontocerebellar Hypoplasia Type 10
Underdeveloped nasal alae, Visual fixation instability, Wide nasal bridge, Strabismus, Abnormal b... ORPHA:411493
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal lung morphology, Central sleep apnea, Gastrointestinal hemorrhage, Hematemesis, Intracra... ORPHA:464321
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Freckling, Hypoplastic toenails ORPHA:1547
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Olivopont... ORPHA:370959
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Micropenis OMIM:309801
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Exodeviation, Hypoplasia of the corpus callosum, Abnorma... ORPHA:254930
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Acute leukemia, Purpur... ORPHA:906
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hemianopia, Hypoplasia ... ORPHA:300573
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Joubert Syndrome 7
Hypoplasia of the brainstem, Nephronophthisis, Brainstem dysplasia, Episodic tachypnea, Oculomoto... OMIM:611560
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Severely reduced ejection fraction, Wolff-Parkinson-Whit... ORPHA:444013
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Neutropenia, Neuronal loss in basal ganglia, Anemia, Abno... ORPHA:506
Joubert Syndrome 36
Strabismus, Molar tooth sign on MRI, Anteverted nares OMIM:618763
Chediak-Higashi Syndrome
Iris hypopigmentation, Abnormal dense granules, Hemophagocytosis, Hypopigmentation of hair, Giant... OMIM:214500
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Rotary nystagmus, Pancytopenia, Jaundice, Decreased liver fu... ORPHA:167
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Nephronophthisis, Abnormal r... OMIM:608091
Mixed Connective Tissue Disease
Hemolytic anemia, Pleuritis, Pericarditis, Pulmonary fibrosis, Purpura, Dyspnea, Prolonged bleedi... ORPHA:809
Panhypophysitis
Panhypopituitarism, Diplopia, Hyposthenuria, Orthostatic hypotension, Decreased circulating corti... ORPHA:95513
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Trichoodontoonychial Dysplasia With Bone Deficiency
Sparse hair, Melanocytic nevus, Nail dysplasia, Supernumerary nipple, Nail dystrophy OMIM:275450
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Adenohypophysitis
Panhypopituitarism, Diplopia, Hyposthenuria, Orthostatic hypotension, Decreased circulating corti... ORPHA:95512
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy, Abnormality of hair texture OMIM:601957
Woodhouse-Sakati Syndrome
Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ovary, Decreased t... ORPHA:3464
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Nystagmus, Thalamic calcification OMIM:618824
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp... ORPHA:280195
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... ORPHA:325
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, Hypopigmented skin patches ORPHA:3239
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Hearing impairment, Hypermelanotic macule OMIM:609056
Clouston Syndrome
Small nail, Onycholysis, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Cerebral cortical atrophy, Asthma, H... ORPHA:1164
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Synophrys, Hypopigmented skin patches, White for... OMIM:148820
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Irregula... ORPHA:90793
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Ureterovesical stenosis, Micropenis OMIM:268650
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract ORPHA:67048
Macs Syndrome
Prolonged bleeding time, Sparse hair, Hypergonadotropic hypogonadism, Sparse and thin eyebrow, Al... OMIM:613075
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, T lymphocytopenia, Central sleep apnea, Elevated hepatic tran... ORPHA:2959
Slc35A2-Cdg
Cerebral white matter atrophy, Transient nephrotic syndrome, Abnormal midbrain morphology, Exotro... ORPHA:356961
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Wide nasal bridge, Dysplastic corpus callosum, Nephrocalcinos... ORPHA:557003
Cach Syndrome
T2 hypointense thalamus, Renal hypoplasia, Cerebral atrophy, Blindness, Hepatosplenomegaly, Atrop... ORPHA:135
Coach Syndrome 3
Nephronophthisis, Oculomotor apraxia, Strabismus, Anemia, Stage 5 chronic kidney disease, Renal i... OMIM:619113
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:139471
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Coach Syndrome 2
Elevated hepatic transaminase, Oculomotor apraxia, Hypertension, Apneic episodes in infancy, Stra... OMIM:619111
Orofaciodigital Syndrome Xv
Wide nasal bridge, Hydronephrosis, Molar tooth sign on MRI, Anteverted nares, Agenesis of corpus ... OMIM:617127
Adult Krabbe Disease
Visual loss, Abnormal midbrain morphology, Abnormal corpus callosum morphology, Urinary incontine... ORPHA:206448
Joubert Syndrome 3
Nephronophthisis, Episodic tachypnea, Oculomotor apraxia, Central apnea, Wide nasal bridge, Elong... OMIM:608629
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary, Polycysti... ORPHA:572333
Phenylketonuria
Cataract, Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Splenomegaly, Nystagmus, Cardiomyopathy, Macrocytic anemia OMIM:619046
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Joubert Syndrome 35
Nyctalopia, Sleep apnea, Oculomotor apraxia, Multicystic kidney dysplasia, Renal fibrosis, Elonga... OMIM:618161
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Restrictive ventilatory defect, Pulmonary fibrosis, Reduced visual acuity, Bru... OMIM:614073
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Oculomotor apraxia, Strabismus, Nystagmus, Molar tooth sign on... OMIM:617761
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Generalized hypopigmentation OMIM:615075
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:613266
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Autoimmune thrombocytopenia, Gastro... ORPHA:324636
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Nephronophthisis, Oculomotor apraxia, Hypometric saccades... OMIM:609583
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Impaired smooth pursuit, Abnormal t... ORPHA:157846
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Respiratory tract infection, Increased red blood cell co... ORPHA:68
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow, Sparse lower eyelashes, Multiple cafe... ORPHA:1807
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Myopia, Wide nasal bridge, Strabismus, Hypermetropia, Antever... ORPHA:404440
Joubert Syndrome 32
Oculomotor apraxia, Polymicrogyria, Depressed nasal bridge, Nystagmus, Molar tooth sign on MRI, H... OMIM:617757
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Absent eyebrow, Sparse axillary hair, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Menkes Disease
Sparse hair, Hypopigmentation of the skin OMIM:309400
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Generalized hirsutism, Congenital giant melanocytic nevus, Hypo... ORPHA:626
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Cataract, Abnormality of retinal pigmentation, Microphthalmia OMIM:251270
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocyto... ORPHA:290
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Griscelli Syndrome
Iris hypopigmentation, Premature graying of hair, Abnormality of neutrophils, Decreased circulati... ORPHA:381
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Relapsing Fever
Abnormal bleeding, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Leukocytosis, H... ORPHA:91547
Lichen Planus Pemphigoides
Abnormality of the nail, Hypopigmented streaks ORPHA:254478
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Bazex Syndrome
Sparse hair, Coarse hair, Trichoepithelioma, Hyperpigmentation of the skin, Trichorrhexis nodosa,... OMIM:301845
Meningioma
Brain stem compression, Enlarged pituitary gland, Pituitary hypothyroidism, Cerebral hemorrhage, ... ORPHA:2495
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Microphthalmia, Syndromic 5
Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia, Anophthalmia OMIM:610125
Cockayne Syndrome Type 2
Conjunctivitis, Developmental cataract, Hypermelanotic macule, Anophthalmia ORPHA:90322
Trisomy 13
Iris coloboma, Aplasia/Hypoplasia of the iris, Cataract, Microphthalmia, Anophthalmia ORPHA:3378
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Sensorineural hearing impairment, Hyp... ORPHA:3214
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Cataract, Bone spicule pigmentation of the retina, Microphthalmia OMIM:611040
Familial Melanoma
Freckling, Abnormal hair morphology ORPHA:618
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... OMIM:611584
Infantile Sialic Acid Storage Disease
Fair hair, Hypopigmentation of the skin, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Diffuse white matter abnormalities, Visual loss, Hypoint... ORPHA:83597
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Septate vagina, Vaginal atresia, Vesicoureteral reflux, Hydronephrosis... ORPHA:2237
Joubert Syndrome 9
Apnea, Episodic tachypnea, Oculomotor apraxia, Cerebral visual impairment, Stage 5 chronic kidney... OMIM:612285
Watson Syndrome
Axillary freckling, Multiple cafe-au-lait spots OMIM:193520
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Visual gaze preference, Central apnea, Abnormal thalamic MRI signal intensity, ... ORPHA:529808
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Respiratory tract infection, Abnormality of neutrophil physiology,... ORPHA:2968
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Hematuria, Pulmonary fibrosi... ORPHA:90060
Acute Bilirubin Encephalopathy
Hemolytic anemia, Central apnea, Abnormal thalamic MRI signal intensity, Prolonged neonatal jaund... ORPHA:529799
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Multiple lentigines ORPHA:101003
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Aceruloplasminemia
Hypochromic microcytic anemia, Abnormal thalamic MRI signal intensity, Congestive heart failure, ... ORPHA:48818
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Nail dysplasia, Nail dystrophy OMIM:613987
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, White hair, Ocular albinis... ORPHA:2720
Joubert Syndrome 28
Oculomotor apraxia, Wide nasal bridge, Strabismus, Nystagmus, Molar tooth sign on MRI OMIM:617121
Classic Mycosis Fungoides
Irregular hyperpigmentation, Alopecia, Abnormality of the nail, Hypopigmented skin patches ORPHA:2584
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:168558
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Accessory spleen, Hypoplasia of the corpus callosum, Fusion of the l... OMIM:619306
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Maternal Uniparental Disomy Of Chromosome X
Low posterior hairline, Hypopigmentation of the skin ORPHA:261519
Joubert Syndrome With Oculorenal Defect
Apnea, Renal insufficiency, Aplasia/Hypoplasia of the corpus callosum, Anteverted nares, Nephropa... ORPHA:2318
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:289548
Joubert Syndrome 22
Temporal cortical atrophy, Renal hypoplasia, Hypoplasia of the corpus callosum, Oculomotor apraxi... OMIM:615665
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy OMIM:204100
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Anophthalmia Plus Syndrome
Iris coloboma, Anophthalmia ORPHA:1104
Pseudohypoparathyroidism Type 1A
Dyspnea, Hypertension, Low urinary cyclic AMP response to PTH administration, Nystagmus, Basal ga... ORPHA:79443
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Patchy... ORPHA:2930
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Generalized hypopigmentation, Ocular albinism ORPHA:352723
Joubert Syndrome 30
Apnea, Reduced visual acuity, Abnormality of eye movement, Tachypnea, Molar tooth sign on MRI OMIM:617622
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Pulmonic stenosis, Depressed n... ORPHA:435638
Renal Agenesis
Absent vas deferens, Unilateral renal agenesis, Aplasia/hypoplasia of the uterus, Renal insuffici... ORPHA:411709
Lichen Planopilaris
Abnormal fingernail morphology, Onycholysis, Alopecia, Hypopigmented skin patches ORPHA:525
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Neutropenia,... ORPHA:79430
Joubert Syndrome With Renal Defect
Apnea, Anteverted nares, Oculomotor apraxia, Nephropathy, Nystagmus, Polymicrogyria, Strabismus, ... ORPHA:220497
Neurofibromatosis, Familial Spinal
Freckling, Cafe-au-lait spot OMIM:162210
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Broad nasal tip, Esotropia, Nystagmus, Molar tooth sign on MRI OMIM:277170
Vici Syndrome
Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Cataract, Decreased circul... ORPHA:1493
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Abnormal pleura morphology, Cerebral cortical atrophy,... ORPHA:2570
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Visual loss, Renal insufficiency, Dilated third ventricle, Molar tooth sign on MRI, Depressed nas... ORPHA:397715
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Horseshoe kidney, Cystic renal dysplasia, Arrhinencephaly, Fusion of the left... OMIM:156810
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Giant melanosomes in melanocytes, Ocular albinism ORPHA:54
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Acute h... ORPHA:99901
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy OMIM:613731
Joubert Syndrome 10
Molar tooth sign on MRI, Wide nasal bridge OMIM:300804
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia OMIM:120433
Joubert Syndrome 27
Molar tooth sign on MRI, Oculomotor apraxia, Nystagmus OMIM:617120
Walker-Warburg Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Microphthalmia, Anophthalmia ORPHA:899
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Joubert Syndrome With Ocular Defect
Apnea, Visual loss, Anteverted nares, Oculomotor apraxia, Nystagmus, Polymicrogyria, Strabismus, ... ORPHA:220493
Joubert Syndrome 1
Hypoplasia of the brainstem, Abnormal saccadic eye movements, Brainstem dysplasia, Episodic tachy... OMIM:213300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:77298
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi...