| Central Centrifugal Cicatricial Alopecia |
|
Scarring alopecia of scalp |
OMIM:618352 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Bjornstad Syndrome |
|
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... |
OMIM:104100 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti |
ORPHA:1573 |
| Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... |
OMIM:602400 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... |
ORPHA:248 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Peeling Skin Syndrome 1 |
|
Palmoplantar hyperhidrosis, Brittle hair, Onycholysis, Nail dystrophy |
OMIM:270300 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Hyperpigmentation of the skin |
ORPHA:50812 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Hypohidrosis, Dystroph... |
ORPHA:1882 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... |
OMIM:129490 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, Onych... |
ORPHA:2251 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis |
OMIM:176100 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair |
OMIM:275400 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin |
OMIM:309400 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Anhidrosis, Dystrophic toenail |
OMIM:619209 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
| Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Woolly hair |
ORPHA:34217 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... |
ORPHA:1433 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair |
OMIM:256500 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia |
OMIM:615704 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Pigmentary retinopathy, Alopecia, Long eyelashes |
ORPHA:3363 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis |
OMIM:226650 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Multiple cafe-au-lait spo... |
ORPHA:3353 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, F... |
OMIM:601675 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Irregular hyp... |
ORPHA:317 |
| Bazex-Dupre-Christol Syndrome |
|
Trichorrhexis nodosa, Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hype... |
OMIM:301845 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair |
OMIM:618810 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e... |
OMIM:305100 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation, Hypohidrosis |
OMIM:125595 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail, Hypohidrosis |
ORPHA:79394 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Mottled pigmentation |
OMIM:608612 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Hypopigmentation of the skin |
OMIM:236200 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair |
ORPHA:1264 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... |
ORPHA:50814 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys... |
OMIM:604536 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab... |
ORPHA:2930 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy... |
ORPHA:1867 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Generalized hyperpigmentation, Slow-growing hair, Abnormal eyelash morphology, Low ... |
ORPHA:1340 |
| Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail |
ORPHA:2584 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Small nail |
OMIM:242100 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron h... |
ORPHA:848 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:525 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis |
ORPHA:100976 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n... |
OMIM:222470 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un... |
OMIM:614594 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp |
OMIM:618373 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Patent ductus arteriosus, Uncombable hair, Woolly hair, C... |
ORPHA:84064 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Early balding |
OMIM:121270 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Hypohidrosis, Fine hair, Onycholysis |
ORPHA:1028 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... |
ORPHA:2710 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy |
OMIM:616353 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus |
OMIM:612079 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Numerous pigmented freckl... |
ORPHA:33364 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine... |
ORPHA:978 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Hypohidrosis, Sparse hair |
ORPHA:2316 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Forehead hyperpigmentation |
OMIM:607812 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair |
ORPHA:659 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Palmoplan... |
ORPHA:2309 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Acrogeria |
|
Irregular hyperpigmentation, Fine hair |
ORPHA:2500 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Hyperhidrosis, Alopecia of scalp, Multiple lentigin... |
OMIM:615280 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Hypohidrosis, Dystrophic toenail, Nail dystrophy, Spa... |
ORPHA:3253 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
| Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Hyper... |
OMIM:257980 |
| Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair |
ORPHA:3447 |
| Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Hyperhidrosis |
OMIM:615279 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Leopard Syndrome 2 |
|
Curly hair, Cafe-au-lait spot, Multiple lentigines |
OMIM:611554 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
| Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Melanocytic nevus, Spar... |
OMIM:602535 |
| Sézary Syndrome |
|
Nail dystrophy, Alopecia, Irregular hyperpigmentation |
ORPHA:3162 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
| Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Hypohidrosis, Abnormality of skin pigmentation, Fine hair, Sparse... |
ORPHA:1806 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:3453 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
| Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait... |
OMIM:613224 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Irregul... |
ORPHA:634 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair |
OMIM:252500 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology |
ORPHA:3082 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology, Hypohidrosis |
ORPHA:1005 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati... |
OMIM:308300 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
| Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Hepatic... |
OMIM:127550 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Alopecia, Nail dystrophy, Hyperpigmentation of the skin |
OMIM:175500 |
| Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
| Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis |
OMIM:619762 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Multiple cafe-au-lait spots, Patchy alopecia |
ORPHA:85279 |
| Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Curly hair, Multiple lentigines, Low posterior hairline |
OMIM:613707 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Nail dysplasia |
OMIM:613990 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Freckling |
OMIM:137940 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
| Noonan Syndrome 5 |
|
Curly hair, Sparse eyebrow, Fine hair, Multiple lentigines, Small nail, Cafe-au-lait spot |
OMIM:611553 |
| Monosomy 18P |
|
Alopecia, Low posterior hairline |
ORPHA:1598 |
| Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
| Hemochromatosis, Type 1 |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:235200 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
| Tonne-Kalscheuer Syndrome |
|
Fine hair, Blue irides, Small nail, Concave nail |
OMIM:300978 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
| Adrenoleukodystrophy |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:300100 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment... |
OMIM:305600 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
| Noonan Syndrome 8 |
|
Curly hair, Patent ductus arteriosus, Hyperpigmentation of the skin |
OMIM:615355 |
| Ane Syndrome |
|
Hyperpigmented nevi, Alopecia, Hyperpigmentation of the skin |
ORPHA:157954 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Sparse eyelashes |
OMIM:610768 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio... |
OMIM:106260 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Omenn Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Cafe-au-lait spot |
ORPHA:166035 |
| Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches |
ORPHA:47 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy, Hyperpigmentation of the skin |
ORPHA:90154 |
| Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... |
ORPHA:37 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... |
OMIM:268130 |
| Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Brushfield spots, Stellate iris, Synophrys, Blue irides, Lon... |
OMIM:619539 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e... |
ORPHA:1071 |
| Mandibuloacral Dysplasia |
|
Abnormality of skin pigmentation, Alopecia, Sparse hair, Hypoplastic fingernail |
ORPHA:2457 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:1647 |
| Dyskeratosis Congenita, Digenic |
|
Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair |
OMIM:613451 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... |
ORPHA:217346 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Pigmentary retinopathy, Nail dystrophy, Alopecia universalis, Vitiligo |
OMIM:240300 |
| Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... |
ORPHA:464 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
| Noonan Syndrome 7 |
|
Hyperhidrosis, Curly hair, Low posterior hairline |
OMIM:613706 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Immunodeficiency 7 |
|
Patchy alopecia, Vitiligo |
OMIM:615387 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
| Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Costello Syndrome |
|
Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Concave nail, Hypo... |
ORPHA:3071 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia |
ORPHA:412057 |
| Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hypopigmentation of the skin |
OMIM:163200 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Breast aplasia, Hyperpigmentation of the... |
ORPHA:90153 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches |
ORPHA:2067 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... |
ORPHA:1775 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Macs Syndrome |
|
Sparse hair, Alopecia, Sparse eyebrow |
OMIM:613075 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Cafe-au-lait spot |
OMIM:616638 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Hypohidrosis, Aplastic/hypoplastic toenail, Fine hair, Aplasia/Hypoplasia o... |
ORPHA:1812 |
| Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Hyperhidrosis, Low posterior hairline, Sparse hair |
OMIM:619745 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
| Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasi... |
ORPHA:69085 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Hirsutism |
ORPHA:79330 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cafe-au-lait spot, Hypopigmented skin patches |
ORPHA:457485 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
| Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
| Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
| Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation |
OMIM:613001 |
| Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Patent ductus arteriosus, Coarse hair, Long eyelashes, Thick e... |
OMIM:616368 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow |
ORPHA:585 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2612 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Alopecia, Low posterior hairline |
ORPHA:2959 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Irregular hyperpigmentation, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
| Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t... |
OMIM:263700 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Patent ductus arteriosus, Low anterior hairline, Low posterior hairline, Coarse hair, ... |
OMIM:617303 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
| Giant Cell Arteritis |
|
Alopecia, Hyperhidrosis |
ORPHA:397 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... |
ORPHA:79396 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
| Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hyperpigmentation of the skin, Hirsutism |
ORPHA:90795 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline, Blue irides |
OMIM:610733 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair |
OMIM:605309 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Spotty hyperpigmen... |
OMIM:614008 |
| Alstrom Syndrome |
|
Pigmentary retinopathy, Alopecia |
OMIM:203800 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Alopecia totalis, Nail dystrophy, Abnormality of the periungual region, Vitiligo |
ORPHA:293978 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Mongolian blue spot, Dry hair, Low anterior hairline |
OMIM:618569 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Alopecia universalis |
OMIM:606367 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:168569 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Hirsutism |
ORPHA:189427 |
| Mixed Connective Tissue Disease |
|
Alopecia |
ORPHA:809 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
| Cranioectodermal Dysplasia 3 |
|
Sparse hair, Short nail, Broad nail, Fine hair |
OMIM:614099 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline |
OMIM:617360 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia |
OMIM:212750 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia, Hypohidrosis |
ORPHA:1401 |
| Diamond-Blackfan Anemia 21 |
|
Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak |
OMIM:620072 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Mottled pigmentation, Onychogryposis |
OMIM:248370 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Reticulated skin pigmentation, Pterygium of ... |
OMIM:305000 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Apl... |
ORPHA:2637 |
| Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Fair hair, Abnormality of hair texture, Iris hypopigmentation |
OMIM:610443 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Patent ductus arteriosus, Low posterior hai... |
OMIM:617506 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Sparse hair, Nail dystrophy, Alopecia universalis, Hypohidrosis |
ORPHA:158668 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Hyperhid... |
OMIM:115150 |
| Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Spotty hypopigmentation, Hypohidrosis, Irregular hyperpigmenta... |
ORPHA:90291 |
| Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Hypermelanotic macule, Fine hair |
OMIM:242900 |
| Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... |
ORPHA:261318 |
| Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Patent ductus arteriosus, Cafe-au-lait spot, Hyperpigmentation of the... |
OMIM:616564 |
| Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail... |
ORPHA:2909 |
| Sympathetic Ophthalmia |
|
Alopecia, Poliosis, Vitiligo |
ORPHA:79098 |
| Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Patent ductus arteriosus, Low posterior hairline, Cafe-au-lait spot, ... |
OMIM:605275 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Hypohidrosis, Coarse hair, Nail dystroph... |
ORPHA:1896 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi... |
OMIM:260400 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Thick hair |
ORPHA:357074 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
| Leigh Syndrome |
|
Alopecia, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
| Focal Dermal Hypoplasia |
|
Abnormality of skin pigmentation, Alopecia, Patent ductus arteriosus, Abnormality of the nail |
ORPHA:2092 |
| Phakomatosis Pigmentokeratotica |
|
Hyperhidrosis, Patchy alopecia, Melanocytic nevus |
ORPHA:2874 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Multiple lentigines, Sparse hai... |
OMIM:607721 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Synophrys, Patent ductus arteriosus, Coarse hair, Long eyelashes, Hypoplastic nipples... |
OMIM:618268 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... |
OMIM:304110 |
| Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypohidrosis, Sparse body hair |
ORPHA:548 |
| Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow |
OMIM:252940 |
| Weaver Syndrome |
|
Deep-set nails, Thin nail, Patent ductus arteriosus, Fine hair, Melanocytic nevus, Sparse hair |
OMIM:277590 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... |
ORPHA:920 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Coarse hair |
OMIM:130720 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... |
OMIM:263650 |
| Juvenile Dermatomyositis |
|
Alopecia |
ORPHA:93672 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia... |
OMIM:181270 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| 2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair |
ORPHA:261349 |
| Adrenomyeloneuropathy |
|
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair |
ORPHA:139399 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow |
OMIM:302960 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
| Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ... |
ORPHA:221008 |
| Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Xeroderma Pigmentosum |
|
Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Freckling |
ORPHA:910 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Vitiligo |
ORPHA:227990 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:37042 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ... |
ORPHA:79474 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia |
ORPHA:536532 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Small nail |
OMIM:308050 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
| Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Hirsutism |
ORPHA:2298 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Vitiligo |
ORPHA:227982 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Cafe-... |
OMIM:601358 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
| Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ... |
ORPHA:221016 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot |
OMIM:613563 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Localized Scleroderma |
|
Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o... |
ORPHA:90289 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:234100 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Synophrys, Abnormality of dermal melanosomes, Hypoplastic sweat glan... |
ORPHA:73223 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Hypohidr... |
OMIM:308205 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Patchy alopecia, Thick eyebrow |
OMIM:300534 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F... |
ORPHA:235 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Renal tubular epithelial necrosis, Nail dystrophy, Anonychia, Abnormality o... |
ORPHA:79404 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
| Autosomal Recessive Robinow Syndrome |
|
Alopecia, Long eyelashes, Fingernail dysplasia |
ORPHA:1507 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Generalized hypopigmentation, Alopecia |
OMIM:619321 |
| Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... |
ORPHA:3107 |
| Noonan Syndrome |
|
Abnormal hair quantity, Coarse hair, Low posterior hairline, Melanocytic nevus |
ORPHA:648 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
| Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... |
OMIM:301040 |
| Cockayne Syndrome B |
|
Anhidrosis, Dry hair, Abnormal hair morphology, Abnormality of skin pigmentation, Pigmentary reti... |
OMIM:133540 |
| Ring Chromosome 13 Syndrome |
|
Abnormality of skin pigmentation, Alopecia, Cafe-au-lait spot |
ORPHA:96176 |
| Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Fine hair |
ORPHA:576 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo |
ORPHA:363958 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Synophrys, Patent ductus arteriosus, Low anterior hairline, Coars... |
ORPHA:955 |
| Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Pigmentary retinopathy, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
| Relapsing Polychondritis |
|
Alopecia |
ORPHA:728 |
| Cockayne Syndrome A |
|
Anhidrosis, Dry hair, Retinal pigment epithelial mottling, Abnormality of skin pigmentation, Pigm... |
OMIM:216400 |
| Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair |
OMIM:218330 |
| Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
| Occipital Horn Syndrome |
|
Coarse hair, Pili torti |
OMIM:304150 |
| Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Absent nipple, Synophrys, Patent ductus arteriosus, Low anterior hairline, Low... |
OMIM:612289 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow |
OMIM:280000 |
| Myhre Syndrome |
|
Sparse hair, Patent ductus arteriosus, Thick eyebrow, Fine hair |
OMIM:139210 |
| Melnick-Needles Syndrome |
|
Coarse hair, Frontal hirsutism |
OMIM:309350 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Ca... |
OMIM:619950 |
| Distal Deletion 12Q |
|
Patent ductus arteriosus, Small nail, Fine hair |
ORPHA:96149 |
| Kikuchi-Fujimoto Disease |
|
Alopecia |
ORPHA:50918 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99413 |
| Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99228 |
| Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99226 |
| Chronic Graft Versus Host Disease |
|
Abnormality of skin pigmentation, Alopecia, Onycholysis, Nail dystrophy |
ORPHA:99921 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Fragile nails, Sparse hair, Hyperpigmentatio... |
OMIM:218040 |
| Bloom Syndrome |
|
Sparse eyelashes, Paronychia, Patchy alopecia, Cafe-au-lait spot, Hypopigmentation of the skin |
ORPHA:125 |
| Zttk Syndrome |
|
Sparse eyebrow, Curly hair, Patent ductus arteriosus, Broad eyebrow |
OMIM:617140 |
| Steinert Myotonic Dystrophy |
|
Early balding, Alopecia |
ORPHA:273 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair |
ORPHA:90324 |
| Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Patent ductus arteriosus, Lumbosacral ... |
OMIM:135900 |
| Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Dry hair, Anhidrosis, Fine hair, Pigmentary retinopathy |
ORPHA:191 |
| Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
| Noonan Syndrome 1 |
|
Woolly hair, Patent ductus arteriosus, Cafe-au-lait spot, Low posterior hairline |
OMIM:163950 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Loss of eyelashes, Patchy alopecia, Dyst... |
ORPHA:740 |
| Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
| Ogden Syndrome |
|
Sparse eyebrow, Patent ductus arteriosus, Long eyelashes, Fine hair |
OMIM:300855 |
| Sarcoidosis |
|
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:797 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Generalized hypopigmentation, Sparse scalp hair, Fine hair |
ORPHA:534 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:210710 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coarse hair |
ORPHA:83617 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Few cafe-au-lait spots, Curly ha... |
OMIM:619503 |
| African Trypanosomiasis |
|
Alopecia |
ORPHA:3385 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Patent ductus arteriosus, Depigmentation/hyperpigmentation of skin, Hypoplastic nippl... |
ORPHA:480880 |
| Viss Syndrome |
|
Patent ductus arteriosus, Sparse scalp hair, Alopecia, Hirsutism |
OMIM:619472 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, ... |
OMIM:601803 |
| Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Melanocytic nevus, Abnormalit... |
ORPHA:286 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Curly hair, Patent ductus arteriosus after birth at term, Broad lateral eyebrow |
ORPHA:500150 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails |
OMIM:613406 |
| Liver Disease, Severe Congenital |
|
Patent ductus arteriosus, Dry hair, Nail dystrophy |
OMIM:619991 |
| Alström Syndrome |
|
Frontal balding, Hirsutism, Fine hair |
ORPHA:64 |
| Steatocystoma Multiplex |
|
|
OMIM:184500 |
| Sebocystomatosis |
|
|
ORPHA:841 |
