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 |
|