Gene: Ap3b1 MGI:1333879

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Human diseases associated with Ap3b1 (1 diseases)
Human diseases predicted to be associated with Ap3b1 (958 diseases)

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	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...

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