Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Athrombia, Essential |
|
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:209050 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules, Palmar pits, Reticulated skin pigmentation |
OMIM:615674 |
Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
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 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:187950 |
Dyschromatosis Universalis Hereditaria 3 |
|
Hypermelanotic macule |
OMIM:615402 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation... |
ORPHA:42665 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... |
OMIM:619267 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair |
OMIM:620199 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Dyschromatosis Universalis Hereditaria |
|
Hypopigmented skin patches, Hearing impairment, Spotty hypopigmentation, Multiple cafe-au-lait sp... |
ORPHA:241 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Hearing impairment, Abnormality of skin pigmentation |
OMIM:300719 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Abnormal diaphysis morphology, White forelock, Abnormal met... |
ORPHA:2779 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... |
OMIM:615888 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... |
OMIM:614009 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... |
OMIM:614201 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... |
OMIM:619947 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... |
OMIM:617294 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Irregular hyperpigmentation, Multiple cafe-au-lait spots |
ORPHA:1336 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... |
OMIM:131960 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... |
OMIM:187800 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail, Tapered f... |
OMIM:302000 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... |
OMIM:145250 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
Hypertrichosis Lanuginosa Congenita |
|
Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation |
ORPHA:2222 |
Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Generalized hyperpigmentation |
ORPHA:2297 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ... |
OMIM:227010 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Tietz Albinism-Deafness Syndrome |
|
Congenital sensorineural hearing impairment, Heterochromia iridis, White eyebrow, White eyelashes... |
OMIM:103500 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... |
OMIM:231200 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... |
ORPHA:79397 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo... |
OMIM:601706 |
Hidrotic Ectodermal Dysplasia |
|
Small nail, Hearing impairment, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse ha... |
ORPHA:189 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Hypopigmente... |
ORPHA:2251 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... |
OMIM:617443 |
Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... |
OMIM:613265 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, Sensorineural hearing impairment, White forelock, Premature graying of hair |
OMIM:600193 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopen... |
OMIM:155100 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori... |
OMIM:193510 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ... |
ORPHA:998 |
Piebald Trait With Neurologic Defects |
|
White forelock, Hearing impairment, Absent pigmentation of the ventral chest |
OMIM:172850 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Generalized hyperpigmentation, Hypermelanotic macule |
OMIM:617920 |
Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment |
OMIM:300650 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges... |
ORPHA:2513 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Uv-Sensitive Syndrome 1 |
|
Pigmentation anomalies of sun-exposed skin, Freckling |
OMIM:600630 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Ataxia-Pancytopenia Syndrome |
|
Gait disturbance, Ataxia, Unsteady gait, Decreased circulating antibody level, Abnormal platelet ... |
ORPHA:2585 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:608404 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur... |
ORPHA:2885 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor... |
ORPHA:895 |
Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ... |
ORPHA:1818 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Dystrophic toenail, Palmoplantar blistering, Abnormal fingernail mo... |
ORPHA:89838 |
Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy |
ORPHA:46487 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis |
OMIM:277740 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Hypertrichosis |
OMIM:176090 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia... |
ORPHA:79402 |
Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thrombocytopen... |
OMIM:139090 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Hypoplastic toenails, Short distal phalanx of finger, Brachytelomesophalangy, Freckling |
ORPHA:1547 |
Factor V Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... |
OMIM:227400 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content, Impaired ... |
OMIM:601399 |
Alopecia Totalis |
|
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails |
ORPHA:700 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Melanocytic nevus, Pili torti, Abnormal limb bone morphology, Freckling, Brittle hair,... |
ORPHA:1573 |
Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region |
ORPHA:79411 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmentatio... |
OMIM:104100 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... |
OMIM:187900 |
Night Blindness, Congenital Stationary, Type 1C |
|
Abnormality of skin pigmentation |
OMIM:613216 |
Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Narrow palm, Hypopigmentation of... |
ORPHA:177910 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Sen... |
ORPHA:3437 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... |
OMIM:277580 |
Darier Disease |
|
Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormali... |
ORPHA:218 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Impaired platelet aggregation |
OMIM:614072 |
Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
Essential Thrombocythemia |
|
Abnormal bleeding, Bruising susceptibility, Abnormality of thrombocytes, Paresthesia, Abnormal pl... |
ORPHA:3318 |
Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Albinism-Deafness Syndrome |
|
Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini... |
OMIM:300700 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... |
ORPHA:238459 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation |
OMIM:225050 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ... |
ORPHA:79153 |
Von Willebrand Disease, Type 1 |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... |
OMIM:193400 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced platelet agg... |
OMIM:153670 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Short first m... |
OMIM:601957 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Bruising susceptibility, Reduced platelet alpha granules, Petechiae, Thrombocytopenia,... |
OMIM:314050 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash... |
OMIM:129500 |
Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla... |
ORPHA:79414 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair |
ORPHA:79476 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Spastic Paraplegia 23, Autosomal Recessive |
|
Multiple lentigines, Premature graying of body hair, Vitiligo, Scapular winging, Hyperpigmentatio... |
OMIM:270750 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... |
ORPHA:158681 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo, Hearing impairment |
OMIM:221350 |
Arterial Dissection-Lentiginosis Syndrome |
|
Melanocytic nevus |
ORPHA:1682 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair |
ORPHA:1810 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... |
ORPHA:274 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Toe syndactyly, Hypopigmented skin patches, O... |
ORPHA:999 |
Myh9-Related Disease |
|
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital thrombocyt... |
ORPHA:182050 |
Piebaldism |
|
Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, White eyebr... |
ORPHA:2884 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopen... |
OMIM:603585 |
Waardenburg Syndrome, Type 3 |
|
Joint contracture of the hand, Hypopigmented skin patches, Clinodactyly, Premature graying of hai... |
OMIM:148820 |
Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
Legius Syndrome |
|
Low-set ears, Inguinal freckling, Low posterior hairline, Posteriorly rotated ears, Freckling, Ax... |
OMIM:611431 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions |
ORPHA:280785 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... |
OMIM:614074 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation |
OMIM:300835 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Pet... |
ORPHA:903 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90342 |
Terminal Osseous Dysplasia |
|
Low-set ears, Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg s... |
OMIM:300244 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Waardenburg-Shah Syndrome |
|
Hearing impairment, Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnor... |
ORPHA:897 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Palmoplantar keratoderma, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Frec... |
OMIM:618373 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Alopecia Universalis |
|
Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of... |
ORPHA:701 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:745 |
Large Congenital Melanocytic Nevus |
|
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... |
ORPHA:626 |
Acral Peeling Skin Syndrome |
|
Hyperpigmentation of the skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Familial Melanoma |
|
Abnormal hair morphology, Freckling |
ORPHA:618 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Hear... |
ORPHA:894 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Nail dystrophy, Abnormality of skin pigmentation |
OMIM:613988 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Vitiligo, Multiple lentigines |
ORPHA:101003 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Lelis Syndrome |
|
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... |
ORPHA:140936 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Hypopigmented skin patches, Abnormality of skin pigmentation |
ORPHA:220402 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Atrichia, Short finger, Nail dystrophy, Spotty hypopigmentation, Tapered finger, Hyperp... |
ORPHA:1867 |
Muenke Syndrome |
|
Hypopigmented skin patches, Carpal synostosis, Tarsal synostosis, Sensorineural hearing impairmen... |
ORPHA:53271 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Hyperpigmentation of the skin, Pili torti, Sparse hair, Tricho... |
OMIM:301845 |
Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper... |
ORPHA:2930 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411515 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Bruising susceptibility, Thrombocytopenia, Intracranial hemorrhage, ... |
ORPHA:3226 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation |
OMIM:616353 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:251270 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Sensorineural hearing impairment, Hyperpigment... |
ORPHA:3214 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Single transverse palm... |
OMIM:618541 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... |
ORPHA:69087 |
Chédiak-Higashi Syndrome |
|
Gingival bleeding, Epistaxis, Spastic paraplegia, Abnormality of neutrophil physiology, Abnormal ... |
ORPHA:167 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperpigmentation of the skin |
OMIM:613743 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... |
OMIM:614075 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Absent nipple, Toe syndactyly, Fine hair, Finger syndactyly, Breast ... |
ORPHA:978 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:743 |
Cranio-Osteoarthropathy |
|
Abnormal tibia morphology, Mottled pigmentation, Deviation of finger, Clubbing of toes |
ORPHA:1525 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage |
ORPHA:90308 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... |
OMIM:613266 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Abnormality of skin pigmentation |
ORPHA:457260 |
Waardenburg Syndrome |
|
Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ... |
ORPHA:3440 |
Branchiogenic Deafness Syndrome |
|
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... |
ORPHA:50815 |
Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Intr... |
ORPHA:324636 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
Neurofibromatosis, Familial Spinal |
|
Cafe-au-lait spot, Freckling |
OMIM:162210 |
Sitosterolemia 1 |
|
Giant platelets, Thrombocytopenia, Impaired platelet aggregation |
OMIM:210250 |
Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Ap... |
OMIM:611584 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... |
OMIM:608233 |
Gastrointestinal Stromal Tumor |
|
Hyperpigmentation of the skin, Large hands |
OMIM:606764 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hematomas, Recur... |
ORPHA:906 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Giant melanosomes in melanocytes, Freckling, Ocular albinism |
ORPHA:54 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morphology, Abnormality of ski... |
ORPHA:1979 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ear, Abnormality of ski... |
ORPHA:1806 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregation |
ORPHA:79329 |
Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Arachnodactyly, Long toe, Abnormality of skin pigmentation, Pal... |
ORPHA:75496 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of the upper limb, Abnormality of skin pigmentation |
ORPHA:834 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Low-set ears, Sandal gap, Brachydactyly, Abnormality of skin pigmentation |
ORPHA:2180 |
Macs Syndrome |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:613075 |
Adult Syndrome |
|
Absent nipple, Toe syndactyly, Fair hair, Breast hypoplasia, Alopecia of scalp, Split foot, Spars... |
OMIM:103285 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Reticulated skin pigmentation, Nail dystrophy |
OMIM:613987 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time |
ORPHA:809 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Low-set ears, Abnormality of skin pigmentation, Hypertrichosis |
OMIM:612379 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Epistaxis, Decreased mean platelet volume, Decreased specific anti-polysacchar... |
OMIM:301000 |
Cog8-Cdg |
|
Prolonged prothrombin time, Myoclonus, Spontaneous hematomas, Ataxia |
ORPHA:95428 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... |
ORPHA:335 |
Pseudohypoparathyroidism Type 1A |
|
Involuntary movements, Paresthesia, Myoclonic spasms, Abnormal platelet function, Choreoathetosis |
ORPHA:79443 |
Squalene Synthase Deficiency |
|
Low-set ears, Elbow flexion contracture, Abnormality of hair pigmentation, 2-3 toe syndactyly, Po... |
OMIM:618156 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:1414 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Sandal gap, Long eyelashes, Thick eyebrow,... |
ORPHA:193 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Nail dystrophy, Sparse eyelashes, Abnormal palmar dermatoglyphics, Abnormality of skin ... |
OMIM:620040 |
3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Abnormal bleeding, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Prolonged... |
OMIM:616271 |
Incontinentia Pigmenti |
|
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... |
OMIM:308300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Myoclonus, Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intraventr... |
OMIM:619055 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypoplastic fingernail, Acroosteolysis of distal phalanges (feet), Abnormality of skin ... |
ORPHA:2457 |
Familial Multiple Nevi Flammei |
|
Irregular hyperpigmentation, Hypermelanotic macule, Abnormality of the upper limb |
ORPHA:624 |
Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
Craniolenticulosutural Dysplasia |
|
Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars... |
ORPHA:50814 |
Incontinentia Pigmenti |
|
Alopecia, Irregular hyperpigmentation, Ridged fingernail, Hypopigmented skin patches, Dystrophic ... |
ORPHA:464 |
Acquired Purpura Fulminans |
|
Macular purpura, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Intracranial ... |
ORPHA:49566 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Gait disturbance, Prolonged pro... |
ORPHA:309854 |
Hennekam-Beemer Syndrome |
|
Irregular hyperpigmentation, Conductive hearing impairment, Hearing impairment, Camptodactyly of ... |
ORPHA:2135 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Thrombocytosis, Myoclonus, Spastic hemiparesis, Hypsarrhythmia, EEG abnormality, Prol... |
ORPHA:20 |
Noonan Syndrome |
|
Abnormal bleeding, Abnormal platelet function, Bruising susceptibility |
ORPHA:648 |
Dubowitz Syndrome |
|
Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Abnormal antihelix morphology, Aplas... |
ORPHA:235 |
Abetalipoproteinemia |
|
Ataxia, Impaired vibratory sensation, Broad-based gait, Abnormal bleeding, Positive Romberg sign,... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Death in childh... |
OMIM:212065 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Hearing impairment, Fine hair, Atresia of the external auditory canal, Camptodact... |
ORPHA:920 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Ataxia, Hemiplegia, Tetraplegia, Hypertonia, Prolonged prothrombin time, Thrombocytopenia |
OMIM:267700 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Multifocal epileptiform discharges, Prolonged prothrombin time |
OMIM:614300 |
Acquired Von Willebrand Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Subcutaneous hemorrhage, Intracr... |
ORPHA:99147 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Hearing impairment, Short thumb, Abnormality of skin pigmentation, Absent radius, C... |
OMIM:227650 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Ataxia, Hemiplegia, Tetraplegia, Hypertonia, Prolonged prothrombin time, Reduced natural killer c... |
OMIM:603553 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia, Cerebellar hemorrhage, Fatigable weakness, Prolonged prothrombin time |
ORPHA:99901 |
3Q29 Microdeletion Syndrome |
|
Low-set ears, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Macrotia, Tapered... |
ORPHA:65286 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Death in infancy, Prolonged prothrombin time |
OMIM:613070 |
Focal Dermal Hypoplasia |
|
Low-set ears, Alopecia, Toe syndactyly, Coarse metaphyseal trabecularization, Hearing impairment,... |
ORPHA:2092 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Fatigable weakness of speech muscles, Inability to walk, Chorea, Myoclonus, Action tremor, Hyperk... |
ORPHA:404454 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Brittle Cornea Syndrome |
|
Conductive hearing impairment, Abnormality of hair pigmentation, Sensorineural hearing impairment... |
ORPHA:90354 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time, Episodic ataxia, Ataxia |
OMIM:311250 |
Relapsing Fever |
|
Epistaxis, Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time |
ORPHA:91547 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired platelet aggregation,... |
ORPHA:2968 |
Infantile Liver Failure Syndrome 3 |
|
Death in childhood, Prolonged prothrombin time |
OMIM:618641 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Prolonged prothrombin time |
OMIM:617049 |
Sialuria |
|
Hyperkinetic movements, Prolonged prothrombin time |
ORPHA:3166 |
Adrenomyeloneuropathy |
|
Abnormality of skin pigmentation, Fine hair, Frontal balding, Lip hyperpigmentation |
ORPHA:139399 |
Ring Chromosome 7 Syndrome |
|
Short 5th finger, Highly arched eyebrow, Small hand, Slender finger, Prominent crus of helix, 3-4... |
ORPHA:1449 |
Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level, Thrombocytosis, Prolonged prothrombin time, Ataxia |
OMIM:212750 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time |
ORPHA:64743 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Fanconi Anemia, Complementation Group D2 |
|
Low-set ears, Absent thumb, Hearing impairment, Short thumb, Preaxial hand polydactyly, Partial d... |
OMIM:227646 |
Classical Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Prolonged bleeding time, Ecchymosis |
ORPHA:287 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Partia... |
ORPHA:96176 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Degcags Syndrome |
|
Low-set ears, Toe syndactyly, Hearing impairment, Premature graying of hair, Genu valgum, Unilate... |
OMIM:619488 |
Shwachman-Diamond Syndrome 2 |
|
Death in infancy, Thrombocytopenia, Death in childhood, Prolonged prothrombin time |
OMIM:617941 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time |
OMIM:618280 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time |
ORPHA:367 |
Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Prolonged prothrombin time |
ORPHA:96168 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time |
ORPHA:79303 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Spasticity, Prolonged prothrombin time |
OMIM:618329 |
Kindler Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Abnor... |
ORPHA:2908 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:613812 |
Alg12-Cdg |
|
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
Acute Liver Failure |
|
Pain insensitivity, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Inco... |
ORPHA:90062 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time |
ORPHA:88618 |
Proteus Syndrome |
|
Low-set ears, Finger syndactyly, Generalized hirsutism, Abnormal metacarpal morphology, Abnormal ... |
ORPHA:744 |
Hellp Syndrome |
|
Thrombocytopenia, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage |
ORPHA:244242 |
Gardner Syndrome |
|
Pilomatrixoma, Abnormality of skin pigmentation |
ORPHA:79665 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time |
ORPHA:71212 |
Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time |
OMIM:614921 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Bruising susceptibility, Excessive bleeding after a venipuncture, Petechiae, I... |
ORPHA:99826 |
Kasabach-Merritt Phenomenon |
|
Thrombocytopenia, Purpura, Petechiae, Prolonged prothrombin time |
ORPHA:2330 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Periodic paralysis, Prolonged prothrombin time, Melena |
OMIM:276700 |
Isolated Biliary Atresia |
|
Prolonged prothrombin time |
ORPHA:30391 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Decreased circulating antibody level, Abnormal bleeding, Prolonged p... |
ORPHA:247598 |
Yellow Fever |
|
Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Internal hemorrhage, Pro... |
ORPHA:99829 |
Primary Sclerosing Cholangitis |
|
Polyclonal elevation of IgM, Prolonged prothrombin time |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Bleeding with minor or no trauma, Thrombocytopenia, Prolonged prothrombin time |
OMIM:619525 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Sturge-Weber Syndrome |
|
Heterochromia iridis |
ORPHA:3205 |
Capillary Malformations, Congenital |
|
|
OMIM:163000 |
Sturge-Weber Syndrome |
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OMIM:185300 |