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:

recombination induced mutation 2, Hps2, AP-3, rim2, beta3A

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 (982 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		Photophobia, Enlarged platelet dense granules, Strabismus, Splenomegaly, Reduced visual acuity, H...	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
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	Multiple cafe-au-lait spots, Freckling	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, Fair hair, Sparse hair	OMIM:600628
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Tietz Syndrome	Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White...	OMIM:214450
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:618117
Dilution, Pigmentary	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	OMIM:126070
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
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	Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme...	ORPHA:241
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Book Syndrome	Premature graying of hair	OMIM:112300
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss	Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ...	OMIM:617294
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l...	OMIM:619947
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon...	OMIM:300510
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame...	OMIM:617565
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Waardenburg Syndrome, Type 2B	White forelock, Premature graying of hair, Heterochromia iridis	OMIM:600193
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility	OMIM:617442
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	OMIM:606952
Ovarian Dysgenesis 6	Hypoplasia of the uterus	OMIM:618078
Premature Ovarian Failure 7	Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, Secondary amenorrhea, Clitoral ...	OMIM:612964
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections	ORPHA:90023
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair...	OMIM:173590
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Athrombia, Essential	Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time	OMIM:209050
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease...	OMIM:614837
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614129
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait...	OMIM:145250
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Glanzmann Thrombasthenia 1	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:273800
Hermansky-Pudlak Syndrome 9	Ocular albinism, Hypopigmentation of the skin, Leukopenia, Abnormal platelet aggregation, Thrombo...	OMIM:614171
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Premature Ovarian Failure 6	Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr...	OMIM:612310
Glanzmann Thrombasthenia 2	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619267
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Albinism-Deafness Syndrome	Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism	OMIM:300700
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Hermansky-Pudlak Syndrome 3	Bruising susceptibility, Abnormal bleeding, Reduced visual acuity, Abnormal number of dense granu...	OMIM:614072
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Irregular menstruation, Secondary amenorrhea, ...	OMIM:619203
46,Xy Sex Reversal 3	Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo...	OMIM:612965
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Mayer-Rokitansky-Kuster-Hauser Syndrome	Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus	OMIM:277000
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Tietz Albinism-Deafness Syndrome	Congenital sensorineural hearing impairment, Blue irides, Generalized hypopigmentation, White eye...	OMIM:103500
Albinism-Deafness Syndrome	Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk...	ORPHA:998
Estrogen Resistance	Hypoplasia of the uterus, Primary amenorrhea	OMIM:615363
Adenomyosis	Dysmenorrhea, Adenomyosis	OMIM:600458
Platelet Aggregation, Spontaneous	Abnormal platelet function, Spontaneous platelet aggregation	OMIM:173400
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619665
Deafness, Congenital, With Total Albinism	Hearing impairment, Albinism	OMIM:220900
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Gonadal dysgenesis with female...	ORPHA:168563
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Endometriosis, Susceptibility To, 1	Endometriosis, Dysmenorrhea, Decreased fertility	OMIM:131200
Ermine Phenotype	Sensorineural hearing impairment, Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, ...	OMIM:227010
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females...	ORPHA:1916
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Pri...	OMIM:614841
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
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Griscelli Syndrome, Type 2	Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos...	OMIM:607624
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
46,Xy Sex Reversal 7	Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe...	OMIM:233420
Waardenburg Syndrome, Type 4B	Sensorineural hearing impairment, Blue irides, White eyebrow, White eyelashes, Heterochromia irid...	OMIM:613265
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti...	OMIM:155100
+173470 integrin, beta-3	Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti...	OMIM:173470
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation	ORPHA:1336
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den...	OMIM:231200
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Thumb Deformity And Alopecia	Increased groin pigmentation with raindrop depigmentation, Alopecia	OMIM:188150
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect	OMIM:619165
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Bleeding Disorder, Platelet-Type, 18	Impaired platelet aggregation, Prolonged bleeding time	OMIM:615888
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Azoospermia	OMIM:601076
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Hearing impairment, Abnormality of skin pigmentation, Thick eyebrow	ORPHA:2222
Hermansky-Pudlak Syndrome 11	Impaired collagen-induced platelet aggregation, Fair hair, Ocular albinism, Reduced platelet dens...	OMIM:619172
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Nail dysplasia, Mottled pigmentation of the trunk and proximal extremities, Hypoplastic fifth toe...	OMIM:131960
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Waardenburg Syndrome, Type 2A	Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry...	OMIM:193510
Hermansky-Pudlak Syndrome 5	Ocular albinism, Hypoplasia of the fovea, Albinism, Impaired ADP-induced platelet aggregation, Ab...	OMIM:614074
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Hypermelanotic macule, Alopecia, M...	ORPHA:79397
Hermansky-Pudlak Syndrome 6	Ocular albinism, Hypopigmentation of the skin, Albinism, Impaired ADP-induced platelet aggregatio...	OMIM:614075
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Oculocutaneous Albinism Type 3	Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:79433
Glanzmann Thrombasthenia	Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Spon...	ORPHA:849
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase	OMIM:600705
Hermansky-Pudlak Syndrome 7	Albinism, Impaired platelet aggregation, Ocular albinism	OMIM:614076
Perrault Syndrome 4	Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome...	OMIM:615300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia	OMIM:173420
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin, Decreased circulating total IgM, Neutropenia	OMIM:610798
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation, Abno...	ORPHA:69125
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, White forelock, Patchy hypo- and hyperpigmentation, Nume...	OMIM:601706
Microphthalmia, Isolated, With Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Elejalde Neuroectodermal Melanolysosomal Syndrome	Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos...	OMIM:256710
Bleeding Disorder, Platelet-Type, 8	Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ...	OMIM:609821
Piebald Trait	Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi...	OMIM:172800
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area...	OMIM:203200
Slc35A1-Cdg	Respiratory distress, Subcutaneous hemorrhage, Hypoxemia, Abnormal bleeding, Pulmonary hemorrhage...	ORPHA:238459
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin	OMIM:302000
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hirsutism, Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, T...	OMIM:314050
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Abnormal fingernail morphology, Hyperpigmentation of the skin, Ridg...	ORPHA:89838
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot...	OMIM:278850
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time	OMIM:608404
Albinism, Oculocutaneous, Type Vi	Abnormal hair morphology, Generalized hypopigmentation	OMIM:113750
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia, Prolonged bleeding time	OMIM:177820
Testicular Agenesis	Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn...	ORPHA:325124
Waardenburg Syndrome Type 2	Sensorineural hearing impairment, Hypopigmentation of hair, Hearing impairment, Heterochromia iri...	ORPHA:895
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Cataract	ORPHA:2253
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Primary amenorrhea, Va...	OMIM:273250
Piebald Trait-Neurologic Defects Syndrome	Sensorineural hearing impairment, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypop...	ORPHA:2885
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal...	OMIM:601399
Von Willebrand Disease, Type 3	Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M...	OMIM:277480
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	ORPHA:2786
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnorma...	ORPHA:3130
Hidrotic Ectodermal Dysplasia	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa...	ORPHA:189
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hypermelanotic macule, N...	ORPHA:79399
Mullerian Aplasia And Hyperandrogenism	Amenorrhea, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the u...	OMIM:158330
Xeroderma Pigmentosum, Autosomal Dominant, Mild	Freckling, Hyperpigmentation of the skin	OMIM:194400
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul...	ORPHA:754
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
White Forelock With Malformations	Poliosis, White forelock	OMIM:277740
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Myh9-Related Disease	Neutrophil inclusion bodies, Nephritis, Bruising susceptibility, Nephropathy, Congenital thromboc...	ORPHA:182050
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ...	OMIM:187900
Bleeding Disorder, Platelet-Type, 11	Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time	OMIM:614201
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Ectopic kidney, Bicornuate uterus	ORPHA:2578
Hermansky-Pudlak Syndrome 8	Hypermetropia, Bruising susceptibility, Abnormal bleeding, Reduced visual acuity, Epistaxis, Meno...	OMIM:614077
Cataract 20, Multiple Types	Membranous cataract, Cataract	OMIM:116100
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Fechtner syndrome	Neutrophil inclusion bodies, Nephritis, Bruising susceptibility, Abnormal bleeding, Menorrhagia, ...	OMIM:153640
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Hypotrichosis 8	Sparse scalp hair, Fair hair, Woolly hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S...	OMIM:278150
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary	ORPHA:247768
Retinitis Pigmentosa 35	Abnormality of skin pigmentation	OMIM:610282
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Thrombocytopenia	OMIM:617443
Gray Platelet Syndrome	Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b...	OMIM:139090
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Pili canaliculi	OMIM:617252
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
46,Xy Sex Reversal 4	Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen...	OMIM:154230
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot...	ORPHA:432
Albinism, Oculocutaneous, Type Vii	Albinism	OMIM:615179
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Albinism, Adult onset sensorineural hearing impairment	OMIM:300650
Bleeding Disorder, Platelet-Type, 14	Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time	OMIM:614158
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Hydronephrosis, Vesico...	OMIM:617805
Oculocerebral Hypopigmentation Syndrome Of Preus	Generalized hypopigmentation, Cataract, Hypochromic anemia	OMIM:257790
Waardenburg Syndrome, Type 4A	Sensorineural hearing impairment, Blue irides, White eyebrow, White eyelashes, Heterochromia irid...	OMIM:277580
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Factor V Deficiency	Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P...	OMIM:227400
Uv-Sensitive Syndrome 1	Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ...	ORPHA:33445
Kennerknecht syndrome	Agonadism, Hypoplasia of the uterus	OMIM:600908
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Hermansky-Pudlak Syndrome 1	Ocular albinism, Bruising susceptibility, Hypopigmentation of the skin, Hypopigmentation of hair,...	OMIM:203300
Oocyte Maturation Defect 10	Female infertility, Miscarriage	OMIM:619176
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Porphyria Cutanea Tarda, Type I	Hypertrichosis, Hyperpigmentation of the skin	OMIM:176090
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he...	ORPHA:3226
Leydig Cell Hypoplasia	Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ...	ORPHA:755
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit...	OMIM:202010
Von Willebrand Disease, Type 1	Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit...	OMIM:193400
Essential Thrombocythemia	Amaurosis fugax, Splenomegaly, Myocardial infarction, Abnormal platelet morphology, Abnormality o...	ORPHA:3318
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy	ORPHA:46487
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Hyp...	ORPHA:2251
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair	OMIM:616760
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Hermansky-Pudlak Syndrome 2	Photophobia, Enlarged platelet dense granules, Strabismus, Splenomegaly, Reduced visual acuity, H...	OMIM:608233
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:79435
Heparin-Induced Thrombocytopenia	Increased serum serotonin, Abnormal onset of bleeding, Autoimmune thrombocytopenia, Pulmonary emb...	ORPHA:3325
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Ocular albinism	OMIM:601220
Focal Facial Dermal Dysplasia Type I	Spotty hyperpigmentation, Low anterior hairline, Sparse hair, Distichiasis, Absent eyelashes, Spo...	ORPHA:79133
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the uterus, Ambiguous genitalia, male, Decreased fertility in males, Micropenis, Hy...	ORPHA:90796
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time	OMIM:188025
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries, Primary amenorrhea	ORPHA:785
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas...	OMIM:266810
Blepharophimosis, Ptosis, And Epicanthus Inversus	Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Premature ovari...	OMIM:110100
Griscelli Syndrome Type 1	Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair	ORPHA:79476
Vogt-Koyanagi-Harada Disease	Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Vitiligo, Abnormal eyelash morphology, ...	ORPHA:3437
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid...	ORPHA:2138
Prothrombin Deficiency, Congenital	Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe...	OMIM:613679
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa...	ORPHA:3411
Leigh Syndrome With Cardiomyopathy	Respiratory distress, Apnea, Abnormality of eye movement, Abnormal brainstem morphology, Respirat...	ORPHA:70474
Neurofibromatosis-Noonan Syndrome	Multiple cafe-au-lait spots, Prolonged bleeding time	ORPHA:638
Urocanase Deficiency	Fair hair, Blue irides	OMIM:276880
Microphthalmia, Isolated 3	Anophthalmia, Sclerocornea, Microphthalmia	OMIM:611038
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ...	OMIM:210250
Bernard-Soulier Syndrome	Asthma, Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising suscep...	ORPHA:274
Bleeding Disorder, Platelet-Type, 12	Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag...	OMIM:605735
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Anonychia, Abnormality of skin pigmentation, Nail dystrophy, Scarring alopecia ...	ORPHA:79402
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis	ORPHA:488191
Complete Androgen Insensitivity Syndrome	Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T...	ORPHA:99429
Self-Improving Dystrophic Epidermolysis Bullosa	Anonychia, Abnormality of the subungual region, Abnormality of skin pigmentation, Nail dystrophy	ORPHA:79411
Caudal Duplication Anomaly	Uterus didelphys, Ureteral duplication	OMIM:607864
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad...	ORPHA:90797
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski...	ORPHA:158681
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Aortic regurgitation, Macrothromboc...	OMIM:603585
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin...	ORPHA:158029
Oocyte Maturation Defect 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Fanconi Anemia, Complementation Group G	Neutropenia, Multiple cafe-au-lait spots, Microphthalmia, Anemia, Thrombocytopenia, Leukemia	OMIM:614082
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Pili torti, Brittle hair, Freckling, Fine hair, Melanocytic nevus	ORPHA:1573
Oculocutaneous Albinism	Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ...	ORPHA:55
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Mottled pigmentation	OMIM:616108
Klippel-Trénaunay Syndrome	Respiratory insufficiency, Pulmonary embolism, Hematuria, Microcytic anemia, Abnormality of the p...	ORPHA:90308
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Hyperpigmentation of the skin, Freckles in sun-exposed areas	ORPHA:90342
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Nail dysplasia, Sparse scalp hair, Sparse eyebrow, Abnormality of skin pigmentation, Recurrent in...	OMIM:225050
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Retinohepatoendocrinologic Syndrome	Abnormality of skin pigmentation	OMIM:268040
Hemophilia B	Joint hemorrhage, Cephalohematoma, Delayed onset bleeding, Prolonged bleeding after dental extrac...	ORPHA:98879
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:609441
Woolly Hair, Autosomal Dominant	Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology	OMIM:194300
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:177910
Renal Cysts And Diabetes Syndrome	Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm...	OMIM:137920
Piebaldism	Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal...	ORPHA:2884
Heterochromia Iridis	Asymmetry of iris pigmentation, Heterochromia iridis	OMIM:142500
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Abnormal eyebrow morphology, Generalized hirsutism, Irregular hyperpigmentation, Generalized hypo...	ORPHA:1816
Premature Ovarian Failure 19	Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency	OMIM:619245
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentati...	OMIM:104100
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris...	ORPHA:79434
Oocyte Maturation Defect 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte Maturation Defect 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Cataract 9, Multiple Types	Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia	OMIM:604219
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Abnormal vagina morphology, Streak ovary, Hypospadias, Nephropathy, Abnormality of the uterus, Re...	OMIM:194072
Oculocutaneous Albinism Type 2	Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk...	ORPHA:79432
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis	Hematocolpos, Uterus didelphys, Partial vaginal septum	OMIM:192050
Corneal Dystrophy, Groenouw Type I	Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy	OMIM:121900
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly	Hyperpigmentation of the skin	OMIM:133750
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Abnormality of the anterior commiss...	OMIM:617542
Ermine Phenotype	Sensorineural hearing impairment, Irregular hyperpigmentation, Ocular albinism, Hypopigmentation ...	ORPHA:999
Popliteal Pterygium Syndrome	Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,...	OMIM:119500
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of...	ORPHA:3109
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
46,Xx Gonadal Dysgenesis	Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Secondary...	ORPHA:243
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White...	ORPHA:897
Blue Rubber Bleb Nevus	Microcytic anemia, Intestinal bleeding, Prolonged bleeding time	ORPHA:1059
Idiopathic Trachyonychia	Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail...	ORPHA:79153
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Wiskott-Aldrich Syndrome	Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent int...	ORPHA:906
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract, Microphthalmia	OMIM:610092
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Aspiration pneumonia, Neonatal respiratory distress, Respi...	OMIM:619057
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Nephrotic syndrome, Uterus didelphys, Proximal renal tubular acidosis, Pr...	OMIM:146255
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi...	OMIM:241080
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased mean platelet volume, Pneumonia, Large vessel vasculitis, Prolonged bleeding time, Abno...	OMIM:600903
Oocyte Maturation Defect 12	Female infertility	OMIM:619697
Dextrocardia With Unusual Facies And Microphthalmia	Anophthalmia, Microphthalmia	OMIM:221950
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication	Progressive vitiligo	OMIM:277465
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Deafness-Vitiligo-Achalasia Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:3239
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ...	OMIM:601186
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology	ORPHA:1810
Darier Disease	Hypermelanotic macule, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, Abno...	ORPHA:218
Storage Pool Platelet Disease	Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time	OMIM:185050
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Trichoodontoonychial Dysplasia With Bone Deficiency	Nail dysplasia, Sparse hair, Supernumerary nipple, Nail dystrophy, Melanocytic nevus	OMIM:275450
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling	ORPHA:1547
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Oculocutaneous Albinism Type 1	Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:352731
Spastic Paraplegia 23, Autosomal Recessive	Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair	OMIM:270750
Chédiak-Higashi Syndrome	Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Jaundice, Splenomegaly,...	ORPHA:167
Coffin-Siris Syndrome 9	Hypoplasia of the uterus	OMIM:615866
Chediak-Higashi Syndrome	Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abnormal dense gra...	OMIM:214500
Familial Acute Necrotizing Encephalopathy	Abnormal visual fixation, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology,...	ORPHA:88619
Mixed Connective Tissue Disease	Splenomegaly, Leukopenia, Nephropathy, Abnormal pulmonary interstitial morphology, Myocarditis, H...	ORPHA:809
Oculocutaneous Albinism Type 1A	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A...	ORPHA:79431
Vaginal Atresia	Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers...	ORPHA:65681
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Deafness, Congenital, With Vitiligo And Achalasia	Hearing impairment, Vitiligo	OMIM:221350
Japanese Encephalitis	Respiratory distress, Increased circulating antibody level, Focal T2 hyperintense thalamic lesion...	ORPHA:79139
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Central sleep apnea, Muscle hemorr...	ORPHA:464321
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Abnormality of hair texture, Nail dystrophy, Nail dysplasia	OMIM:601957
Wiskott-Aldrich Syndrome	Melena, Decreased mean platelet volume, Large vessel vasculitis, Prolonged bleeding time, Abnorma...	OMIM:301000
Clouston Syndrome	Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop...	OMIM:129500
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal best corrected visual acuity test, Abnormality of eye movement, Visual loss, Abnormal sa...	ORPHA:300570
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	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
Congenital Factor Ii Deficiency	Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P...	ORPHA:325
Megalocornea	Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Iris transil...	OMIM:309300
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Micropenis, Streak ovary, Hypoplasia of the fallopian tube, Decreased t...	ORPHA:3464
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Panhypophysitis	Progressive visual field defects, Adrenocorticotropic hormone deficiency, Decreased serum testost...	ORPHA:95513
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea	ORPHA:139471
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Oocyte Maturation Defect 1	Female infertility	OMIM:615774
Anterior Segment Dysgenesis 8	Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Iris transillumination de...	OMIM:617319
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Rudiger Syndrome	Ovarian cyst, Ureterovesical stenosis, Bicornuate uterus, Micropenis	OMIM:268650
Cataract 11, Multiple Types	Cataract, Microphthalmia	OMIM:610623
Waardenburg Syndrome, Type 3	Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying...	OMIM:148820
Mgat2-Cdg	Respiratory distress, Recurrent upper and lower respiratory tract infections, Decreased circulati...	ORPHA:79329
Salt And Pepper Developmental Regression Syndrome	Hearing impairment, Abnormality of skin pigmentation, Hypermelanotic macule	OMIM:609056
Adenohypophysitis	Progressive visual field defects, Adrenocorticotropic hormone deficiency, Decreased serum testost...	ORPHA:95512
Coach Syndrome 3	Nephronophthisis, Renal insufficiency, Oculomotor apraxia, Anemia, Strabismus, Stage 5 chronic ki...	OMIM:619113
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Thrombocytopenia, Cataract	ORPHA:67048
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,...	ORPHA:90793
Waardenburg Syndrome Type 1	Congenital sensorineural hearing impairment, Thick eyebrow, Hypopigmentation of hair, Hearing imp...	ORPHA:894
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume, Blindness, Hypoplasia of the pons, Agenesis of corpus callosum, Abnorm...	ORPHA:370959
Phenylketonuria	Cataract, Fair hair, Blue irides, Generalized hypopigmentation	OMIM:261600
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion, Apnea, Episodic tachypnea, Abnormal enzyme/coenzyme activi...	ORPHA:79264
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Abnormal brainstem MRI signal intens...	ORPHA:444013
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Abnormality of thalamus morphology, Abnormal saccadic eye movements	OMIM:613724
Leigh Syndrome	Hepatic failure, Respiratory failure, Decreased biotinidase level, Renal tubular dysfunction, Nep...	ORPHA:506
Linear Skin Defects With Multiple Congenital Anomalies 1	Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy	OMIM:309801
Cataract-Microcornea Syndrome	Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy	ORPHA:1377
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia	OMIM:613885
Joubert Syndrome 4	Elongated superior cerebellar peduncle, Abnormal renal medulla morphology, Nephronophthisis, Hypo...	OMIM:609583
Joubert Syndrome 36	Strabismus, Molar tooth sign on MRI	OMIM:618763
Myoectodermal Gonadal Dysgenesis Syndrome	Hypoplasia of the uterus, Unilateral renal agenesis, Gonadal dysgenesis, Clitoral hypoplasia, Hyp...	OMIM:618419
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract	OMIM:618660
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem	OMIM:619072
Combined Oxidative Phosphorylation Defect Type 7	Visual field defect, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intens...	ORPHA:254930
Hermansky-Pudlak Syndrome 4	Bruising susceptibility, Abnormal bleeding, Reduced visual acuity, Epistaxis, Menorrhagia, Horizo...	OMIM:614073
Progeria-Short Stature-Pigmented Nevi Syndrome	Supraventricular arrhythmia, Decreased serum testosterone concentration, Central sleep apnea, Mic...	ORPHA:2959
Waardenburg Syndrome, Type 4C	Sensorineural hearing impairment, Blue irides, White eyebrow, White eyelashes, Heterochromia irid...	OMIM:613266
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Oligo...	ORPHA:572333
Adrenocortical Hypofunction, Chronic Primary Congenital	Hyperpigmentation of the skin	OMIM:103230
Griscelli Syndrome Type 2	Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial albinism, Iris hyp...	ORPHA:79477
Focal Facial Dermal Dysplasia Type Iii	Sparse hair, Abnormal hair pattern, Sparse lateral eyebrow, Sparse lower eyelashes, Distichiasis,...	ORPHA:1807
Autoerythrocyte Sensitization Syndrome	Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A...	ORPHA:324636
Coach Syndrome 2	Hypertension, Apneic episodes in infancy, Elevated hepatic transaminase, Oculomotor apraxia, Stra...	OMIM:619111
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Naegeli-Franceschetti-Jadassohn Syndrome	Generalized reticulate brown pigmentation, Hypopigmentation of the skin, Fragile nails, Subungual...	ORPHA:69087
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia	OMIM:615113
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia, Cardiomyopathy, Nystagmus	OMIM:619046
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela...	OMIM:601375
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White...	OMIM:203100
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Cataract	OMIM:273680
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Cataract, Microphthalmia	OMIM:251270
Autosomal Dominant Keratitis	Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro...	ORPHA:2334
Anencephaly 2	Anophthalmia	OMIM:619452
Joubert Syndrome 7	Episodic tachypnea, Brainstem dysplasia, Nephronophthisis, Tachypnea, Central apnea, Renal cyst, ...	OMIM:611560
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Generalized hirsutism, Abnormality of skin pigmentation, Hypo...	ORPHA:626
Porokeratosis	Abnormality of skin pigmentation	ORPHA:79358
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification, Nystagmus	OMIM:618824
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Sparse hair	ORPHA:261304
Griscelli Syndrome	Splenomegaly, Leukopenia, Silver-gray hair, Abnormality of neutrophils, Iris hypopigmentation, De...	ORPHA:381
Congenital Rubella Syndrome	Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Thrombocytopenia, Cataract, M...	ORPHA:290
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair	OMIM:618541
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Dilated vestibule of the ...	OMIM:611584
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microcornea, Cataract, Microphthalmia	OMIM:610125
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Sensorineural hearing impairment, Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyp...	ORPHA:3214
Cockayne Syndrome Type 2	Hypermelanotic macule, Anophthalmia, Developmental cataract, Conjunctivitis	ORPHA:90322
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair, Vacuolated lymphocytes, Splenomegaly	OMIM:269920
Lichen Planus Pemphigoides	Abnormality of the nail, Hypopigmented streaks	ORPHA:254478
Trisomy 13	Anophthalmia, Iris coloboma, Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:3378
Cach Syndrome	Abnormal pons morphology, Hepatosplenomegaly, T2 hypointense thalamus, Atrophy/Degeneration affec...	ORPHA:135
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Abnormality of skin pigmentation, Cataract, Microphthalmia	OMIM:611040
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation, Iron deficiency anemia	OMIM:618372
Bazex Syndrome	Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Hyperpigmentation of the skin, Tricho...	OMIM:301845
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract	OMIM:613801
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Macs Syndrome	Sparse hair, Sparse eyebrow, Alopecia, Hypergonadotropic hypogonadism, Bruising susceptibility, P...	OMIM:613075
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Joubert Syndrome 3	Elongated superior cerebellar peduncle, Episodic tachypnea, Nephronophthisis, Central apnea, Neon...	OMIM:608629
Meningioma	Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal kinetic perim...	ORPHA:2495
Joubert Syndrome 9	Apnea, Episodic tachypnea, Cerebral visual impairment, Oculomotor apraxia, Molar tooth sign on MR...	OMIM:612285
Carney Complex, Type 1	Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair	OMIM:160980
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Hypermetropia, Hemianopia, Abnormality of thalamus morphology, Strabismus, Myopia	ORPHA:404440
Adult Krabbe Disease	Abnormal pons morphology, Abnormal enzyme/coenzyme activity, Morphological abnormality of the cor...	ORPHA:206448
Joubert Syndrome 35	Elongated superior cerebellar peduncle, Sleep apnea, Nyctalopia, Oculomotor apraxia, Multicystic ...	OMIM:618161
Oculocerebrodental Syndrome	Abnormality of thalamus morphology, Dysplastic corpus callosum, Nephrocalcinosis	ORPHA:557003
Relapsing Fever	Neutrophilia, Leukocytosis, Jaundice, Abnormal bleeding, Leukopenia, Tachycardia, Hematuria, Hypo...	ORPHA:91547
Anterior Segment Dysgenesis 7	Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea	OMIM:269400
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Vitiligo, Multiple lentigines	ORPHA:101003
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Uterus didelphys, Septate vagina, Aplasia of the uterus, Polycystic ki...	ORPHA:2237
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair, Cataract	ORPHA:79254
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo...	ORPHA:168558
Abcd Syndrome	Polycythemia, Neonatal death, Albinism, White eyelashes, White eyebrow	OMIM:600501
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ocular albinism, Generalized hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, Ir...	ORPHA:2720
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Waardenburg Syndrome	Conductive hearing impairment, Abnormal eyebrow morphology, Hypopigmentation of hair, Hearing imp...	ORPHA:3440
Hymen, Imperforate	Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos	OMIM:237100
Classic Mycosis Fungoides	Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches, Alopecia	ORPHA:2584
Wolfram Syndrome 2	Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody...	OMIM:604928
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cough, Whee...	OMIM:613490
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Menkes Disease	Hypopigmentation of the skin, Sparse hair, Brittle hair, Alopecia	OMIM:309400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo...	ORPHA:289548
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Anophthalmia Plus Syndrome	Iris coloboma, Anophthalmia	ORPHA:1104
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair	ORPHA:2221
Cronkhite-Canada Syndrome	Hypoplastic toenails, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyeb...	ORPHA:2930
Renal Agenesis	Unilateral renal agenesis, Aplasia/hypoplasia of the uterus, Ureteral agenesis, Absent vas defere...	ORPHA:411709
Vici Syndrome	Abnormality of retinal pigmentation, Decreased circulating IgG level, Hypopigmentation of the ski...	ORPHA:1493
Slc35A2-Cdg	Transient nephrotic syndrome, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dil...	ORPHA:356961
Afibrinogenemia, Congenital	Abnormal umbilical stump bleeding, Subdural hemorrhage, Persistent bleeding after trauma, Bruisin...	OMIM:202400
Joubert Syndrome 30	Apnea, Reduced visual acuity, Abnormality of eye movement, Tachypnea, Molar tooth sign on MRI	OMIM:617622
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosis	OMIM:617127
Lichen Planopilaris	Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches, Alopecia	ORPHA:525
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Abnormal thalamic MRI signal intensity, Visual gaze preference, ...	ORPHA:529808
Hermansky-Pudlak Syndrome	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Astigmatism, Partial alb...	ORPHA:79430
Attenuated Chédiak-Higashi Syndrome	Ocular albinism, Recurrent respiratory infections, Generalized hypopigmentation	ORPHA:352723
Joubert Syndrome 2	Neonatal breathing dysregulation, Elongated superior cerebellar peduncle, Abnormality of ocular s...	OMIM:608091
Allergic Bronchopulmonary Aspergillosis	Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas...	ORPHA:1164
Walker-Warburg Syndrome	Corneal opacity, Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia	ORPHA:899
Acute Bilirubin Encephalopathy	Upgaze palsy, Central apnea, Hemolytic anemia, Abnormal thalamic MRI signal intensity, Prolonged ...	ORPHA:529799
Joubert Syndrome 31	Oculomotor apraxia, Strabismus, Nystagmus, Molar tooth sign on MRI	OMIM:617761
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology	ORPHA:397725
Chronic Actinic Dermatitis	Hypopigmented skin patches, Progressive hyperpigmentation	ORPHA:330064
Hereditary Bullous Dystrophy, Macular Type	Congenital abnormal hair pattern, Atrichia, Alopecia, Hyperpigmentation of the skin, Nail dystrop...	ORPHA:1867
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy	OMIM:613731
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Anophthalmia, Sclerocornea, Microphthalmia	ORPHA:77298
X-Linked Recessive Ocular Albinism	Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Ocular albinism	ORPHA:54
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Sparse hair, Nail dystrophy, Alopecia	OMIM:616353
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Ectopia pupillae, Anophthalmia, Microcornea, Cataract, Microphthalmia, Sclerocornea	OMIM:615877
Lelis Syndrome	Yellow nails, Sparse hair, Vitiligo, Perioral hyperpigmentation, Abnormal toenail morphology, Nai...	ORPHA:140936
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia	OMIM:120433
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Amoebiasis Due To Free-Living Amoebae	Photophobia, Sinusitis, Abnormal pons morphology, Abnormal hypothalamus morphology, Diplopia, Ocu...	ORPHA:68
Prune Belly Syndrome	Urogenital sinus anomaly, Cryptorchidism, Abnormality of the ureter, Hydroureter, Multicystic kid...	ORPHA:2970
Diffuse Alveolar Hemorrhage	Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary venous hypertension,...	ORPHA:90060
Cockayne Syndrome Type 1	Hypermelanotic macule, Anophthalmia, Pigmentary retinopathy, Cataract, Anemia, Conjunctivitis	ORPHA:90321
Septopreoptic Holoprosencephaly	Central diabetes insipidus, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain m...	ORPHA:280195
Joubert Syndrome 27	Oculomotor apraxia, Molar tooth sign on MRI, Nystagmus	OMIM:617120
Congenital Factor Vii Deficiency	Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor...	ORPHA:327
Aceruloplasminemia	Abnormal enzyme/coenzyme activity, Hypochromic microcytic anemia, Abnormal thalamic MRI signal in...	ORPHA:48818
Congenital Factor X Deficiency	Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos...	ORPHA:328
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Progressive visual loss, Visual impairment, T2 hypointense thalamus	ORPHA:1947
Muenke Syndrome	Sensorineural hearing impairment, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented ...	ORPHA:53271
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Thrombocyt...	ORPHA:49566
Hemochromatosis, Type 4	Anemia, Hyperpigmentation of the skin, Cataract	OMIM:606069
Leukocyte Adhesion Deficiency	Sinusitis, Hyperinsulinemic hypoglycemia, Lymphocytic interstitial pneumonia, Leukocytosis, Polyc...	ORPHA:2968
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Ataxia-Telangiectasia	Premature graying of hair, Lymphopenia, Hypopigmentation of hair, Decreased circulating antibody ...	ORPHA:100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia	ORPHA:1473
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Joubert Syndrome 20	Oculomotor apraxia, Renal cyst, Respiratory insufficiency, Molar tooth sign on MRI	OMIM:614970
Dentinogenesis Imperfecta	Bruising susceptibility, Prolonged bleeding time	ORPHA:49042
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:98795
Autoimmune Polyendocrinopathy Type 2	Hypopigmented skin patches, Alopecia	ORPHA:3143
Joubert Syndrome 33	Oculomotor apraxia, Apnea, Molar tooth sign on MRI	OMIM:617767
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Iris coloboma, Cataract	OMIM:300337
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Abnormal leukocyte morphology, Anemia, Generalized hyperpigmentation, Nail dys...	ORPHA:3322
Joubert Syndrome 28	Oculomotor apraxia, Strabismus, Nystagmus, Molar tooth sign on MRI	OMIM:617121
Vici Syndrome	Decreased circulating IgG level, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation ...	OMIM:242840
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Noonan Syndrome	Abnormal hair quantity, Abnormal bleeding, Hypogonadotropic hypogonadism, Coarse hair, Abnormal p...	ORPHA:648
Ovarian Fibrothecoma	Abnormal endometrium morphology, Metrorrhagia, Gonadal calcification, Ovarian fibroma, Abnormalit...	ORPHA:314478
Premature Ovarian Failure 20

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