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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ap3b1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hermansky-Pudlak Syndrome 2
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 Similarity of
phenotypes
Matching phenotypes Source
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
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