| Central Centrifugal Cicatricial Alopecia |
|
Scarring alopecia of scalp |
OMIM:618352 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| 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 |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Hypotrichosis 3 |
|
Sparse scalp hair |
OMIM:613981 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
| Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
| Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
| Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
| Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair |
OMIM:212835 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... |
ORPHA:2722 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
| Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Trichodental Dysplasia |
|
Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
| Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:607903 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
| Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Hypohidrosis, Sparse and thin eyebrow, Sparse hair |
OMIM:602400 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentation of the skin, Nail dysplasia, Leukonychi... |
OMIM:104100 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Freckling, Brittle hair, Melanocytic nevus, Pili torti, Sparse scalp hair |
ORPHA:1573 |
| Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
| Dwarfism, Familial, With Muscle Spasms |
|
Fine hair, Sparse scalp hair, Brittle scalp hair |
OMIM:600771 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... |
ORPHA:2891 |
| Pilodental Dysplasia With Refractive Errors |
|
Brittle hair, Reticular hyperpigmentation, Brittle scalp hair, Abnormality of the nail, Sparse sc... |
OMIM:262020 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:261900 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Brittle hair, Coarse hair |
OMIM:616390 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
| Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... |
ORPHA:2890 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Hypohidrosis, Abnorma... |
ORPHA:248 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Abnormality of hair texture |
OMIM:270300 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, 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 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi |
OMIM:614602 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... |
OMIM:225060 |
| Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
| Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:616395 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... |
ORPHA:1008 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
| Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia |
OMIM:613977 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Coarse hair, Sparse hair |
ORPHA:1883 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia, Hyperpigmentation of the skin |
ORPHA:50812 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Melanoc... |
ORPHA:1882 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin |
ORPHA:3319 |
| Porphyria Cutanea Tarda |
|
Alopecia, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Onycholysis |
OMIM:176100 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Tiger tail banding |
OMIM:616943 |
| Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp |
ORPHA:346 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na... |
OMIM:234050 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Reticula... |
ORPHA:79397 |
| Progeroid Syndrome, Petty Type |
|
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali... |
ORPHA:2963 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Fine hair, Sparse eyelashes, Nail dysplasia, Hypohidrosis, Slow-growing hair, Sparse and thin eye... |
OMIM:129490 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia |
OMIM:614564 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Pseudopelade Of Brocq |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... |
ORPHA:129 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... |
ORPHA:2251 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding |
OMIM:300953 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Sparse hair, Long eyebrows |
OMIM:275400 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Anhidrosis, Dystrophic toenail |
OMIM:619209 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Coarse hair |
ORPHA:75389 |
| Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
| Netherton Syndrome |
|
Sparse and thin eyebrow, Brittle hair, Brittle scalp hair, Sparse scalp hair |
OMIM:256500 |
| Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Abnormality of retinal pigmentation, Ungual fibroma, Abnormal toenail morphology, Spar... |
ORPHA:1433 |
| Naxos Disease |
|
Abnormality of hair texture, Curly hair, Hyperhidrosis, Woolly hair, Sparse scalp hair |
ORPHA:34217 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas... |
ORPHA:2228 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Nail dystrophy, Alopecia |
OMIM:618373 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
| Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Alopecia, Hypohidrosis |
OMIM:615704 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Highly arched eyebrow, Brittle hair, Long eyelashes, Thick eyebrow, Synophrys |
OMIM:617412 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... |
ORPHA:113 |
| Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow |
OMIM:607655 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
| Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Tiger tail banding, Small nail, Freckling, Brittle hair, Nail dystrophy, Trichorrhexis... |
OMIM:601675 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Sparse or absent eyelashes, Multiple cafe-au-lai... |
ORPHA:3353 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hyperpigmentation of the skin, Alopecia, Melanocytic nevus |
OMIM:612079 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Hyperhidrosis, Alopecia universalis, Sp... |
OMIM:614594 |
| Bazex Syndrome |
|
Hyperpigmentation of the skin, Coarse hair, Trichorrhexis nodosa, Pili torti, Hypohidrosis, Spars... |
OMIM:301845 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Nail dystrophy, Alopecia totalis |
OMIM:212360 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Pseudoprogeria Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair |
ORPHA:2985 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Alopecia, Abnormality of hair texture, Sparse hair, Mottled pigmentation |
OMIM:608612 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Nail dystrophy, Brittle hair, Dry hair |
ORPHA:93947 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Coarse hair, Abnormality of hair texture |
OMIM:219200 |
| Schöpf-Schulz-Passarge Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia |
ORPHA:50944 |
| Hawkinsinuria |
|
Fine hair, Sparse hair |
ORPHA:2118 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Irregular hyperpigmentation, Abnormality of the nail, General... |
ORPHA:317 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair |
ORPHA:2850 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia |
OMIM:129540 |
| Pachyonychia Congenita 2 |
|
Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar... |
OMIM:167210 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Curly hair, Sparse hair, Absent eyebrow |
OMIM:615278 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Alopecia |
OMIM:617763 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow |
OMIM:618810 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Small nail, Abnormal hair morphology, Thin nail, Alopecia, Hypohidrosis |
OMIM:242100 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal toenail morphology, Alopecia, Abnormality of the nail |
ORPHA:494 |
| Idiopathic Trachyonychia |
|
Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyperkeratosis, Vitili... |
ORPHA:79153 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyelashes, Hypoplastic nipples, Sparse ha... |
OMIM:305100 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair |
ORPHA:1264 |
| Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail, Hypohidrosis |
ORPHA:79394 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... |
ORPHA:2325 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia |
OMIM:607823 |
| Amaurosis-Hypertrichosis Syndrome |
|
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys |
ORPHA:1021 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
| Dermatopathia Pigmentosa Reticularis |
|
Nail dystrophy, Alopecia of scalp, Reticular hyperpigmentation, Hypohidrosis |
OMIM:125595 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Hypopigmentation of the skin |
OMIM:236200 |
| Hypervitaminosis A, Susceptibility To |
|
Alopecia totalis |
OMIM:240150 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
| Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, Brittle hair, Hyperpigmentation of the skin, Coarse hair, Spars... |
ORPHA:50814 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Hypotrichosis Simplex Of The Scalp |
|
Fine hair, Sparse scalp hair, Alopecia of scalp, Slow-growing scalp hair |
ORPHA:90368 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Nail dysplasia, Sparse an... |
OMIM:612843 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair |
OMIM:242300 |
| Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Alopecia, Irregular hyperpigmentation, Abnormality of the nail |
ORPHA:2584 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Spotty hypopigmentation, Hyperpigmentation of the skin, Nail dystrophy, Alopecia, Atrichia, Conge... |
ORPHA:1867 |
| Odontoonychodermal Dysplasia |
|
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Sparse scalp h... |
OMIM:257980 |
| Cronkhite-Canada Syndrome |
|
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Generalized hyperpigmentation, Abnor... |
ORPHA:2930 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia, Hypohidrosis, Sparse and thin eyebrow, Sparse hair |
OMIM:613451 |
| Bathing Suit Ichthyosis |
|
Nail dystrophy, Alopecia, Sparse hair, Hypohidrosis |
ORPHA:100976 |
| Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Hypopigmentation of the skin, Abnormality of hair texture |
OMIM:601957 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Sparse hair |
ORPHA:1839 |
| Cardiofaciocutaneous Syndrome |
|
Fine hair, Dystrophic fingernails, Generalized hyperpigmentation, Brittle hair, Multiple lentigin... |
ORPHA:1340 |
| Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia, Onycholysis |
ORPHA:525 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... |
ORPHA:2269 |
| Argininosuccinic Aciduria |
|
Brittle hair, Dry hair, Trichorrhexis nodosa |
OMIM:207900 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia |
OMIM:618282 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Coarse hair |
OMIM:248010 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| Johnson Neuroectodermal Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Patent ductus arteriosus, Hypohidrosis, Multiple cafe... |
OMIM:147770 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly, Microcytic ... |
ORPHA:848 |
| Syndromic Diarrhea |
|
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Patent ductus arteriosus, Woolly hair, Hypop... |
ORPHA:84064 |
| Hemifacial Atrophy, Progressive |
|
Poliosis, Patchy alopecia |
OMIM:141300 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
| Trichohepatoenteric Syndrome 1 |
|
Fine hair, Brittle hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Sparse hair |
OMIM:222470 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Fine hair, High anterior hairline, Long eyelashes, Hyperhidrosis |
ORPHA:231137 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Fine hair, Brittle hair, Sparse hair |
OMIM:618891 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
| Growth Hormone Insensitivity Syndrome |
|
Fine hair, Abnormality of the nail |
ORPHA:181393 |
| Trichothiodystrophy |
|
Tiger tail banding, Alopecia of scalp, Dystrophic fingernails, Split nail, Ridged nail, Aplasia/H... |
ORPHA:33364 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Onycholysis, Hypohidrosis, Hypoplastic toenails, Abnormal fingernail morphology |
ORPHA:1028 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
| Johnson Neuroectodermal Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Hypohidrosis, Multiple cafe-au-lait spots, Sparse hair |
ORPHA:2316 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypopigmented skin patches, Alopecia |
ORPHA:3143 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Fine hair, Sparse scalp hair |
ORPHA:2324 |
| Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Freckling, Alopecia, Sparse scalp hair, Mel... |
ORPHA:978 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair |
OMIM:605676 |
| Oculodentodigital Dysplasia |
|
Fine hair, Brittle hair, Curly hair, Abnormality of the nail, Slow-growing hair, Abnormal fingern... |
ORPHA:2710 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair |
ORPHA:69735 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology, Anhidrosis, Palmoplantar hyperhidrosis |
ORPHA:659 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Pili canaliculi, Uncombable hair |
OMIM:191482 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Sparse hair |
ORPHA:3051 |
| Olmsted Syndrome, X-Linked |
|
Alopecia totalis, Subungual hyperkeratosis |
OMIM:300918 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
| Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... |
ORPHA:251393 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
| Acrogeria |
|
Fine hair, Irregular hyperpigmentation |
ORPHA:2500 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
| Cerebellofaciodental Syndrome |
|
Fine hair, Sparse and thin eyebrow, Sparse hair |
OMIM:616202 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyelashes, Thick hair, Alopecia, Sparse hair |
OMIM:607626 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly hair, Hypoplastic fingernail, Con... |
OMIM:258360 |
| Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
| Weaver Syndrome |
|
Fine hair, Thin nail, Deep-set nails, Hypoplastic toenails, Abnormal fingernail morphology |
ORPHA:3447 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... |
ORPHA:3253 |
| Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
| Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... |
OMIM:211370 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Leopard Syndrome 2 |
|
Curly hair, Multiple lentigines, Cafe-au-lait spot |
OMIM:611554 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair |
OMIM:615821 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Fragile nails |
OMIM:242150 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Hyperhidrosis |
OMIM:615279 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Sparse hair, Forehead hyperpigmentation, Coarse hair |
OMIM:607812 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Spinocerebellar Ataxia With Dysmorphism |
|
Coarse hair |
OMIM:271270 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Alopecia, Paronychia, Onychog... |
ORPHA:2309 |
| Rapp-Hodgkin Syndrome |
|
Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Hypohidrosis, Onyc... |
OMIM:129400 |
| Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Woolly hair, Ridged fingernail, Low posterior hairline, Widow's peak |
ORPHA:1520 |
| Renpenning Syndrome |
|
Alopecia, Abnormal hair laboratory examination, Thin eyebrow |
ORPHA:3242 |
| Rodrigues Blindness |
|
Fine hair, Sparse hair |
OMIM:268320 |
| Mucopolysaccharidosis, Type Iiia |
|
Coarse hair, Hirsutism, Synophrys |
OMIM:252900 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Alopecia, Onychogryposis |
ORPHA:79395 |
| Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
| Multiple Carboxylase Deficiency |
|
Alopecia |
ORPHA:148 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Giant Axonal Neuropathy |
|
Pili canaliculi, Woolly hair |
ORPHA:643 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Alopecia totalis, Anonychia, Absent fingernail |
OMIM:609638 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia |
ORPHA:3453 |
| Sézary Syndrome |
|
Nail dystrophy, Alopecia, Irregular hyperpigmentation |
ORPHA:3162 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Coarse hair, Synophrys |
OMIM:616351 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... |
OMIM:613102 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Fine hair, Abnormality of skin pigmentation, Hypohidrosis, Abnormal fingernail morphology, Sparse... |
ORPHA:1806 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Small nail, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili torti, Fragile nails |
OMIM:261990 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
| Mandibulofacial Dysostosis With Alopecia |
|
Sparse and thin eyebrow, Sparse eyelashes, Alopecia |
OMIM:616367 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse eyelashes, Freckling, Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow,... |
OMIM:137940 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Sparse hair, Coarse hair, Alopecia |
ORPHA:2750 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Noonan Syndrome 6 |
|
Curly hair, Multiple lentigines, Low posterior hairline, Sparse hair, Long eyebrows, Cafe-au-lait... |
OMIM:613224 |
| Netherton Syndrome |
|
Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, I... |
ORPHA:634 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology, Uncombable hair |
ORPHA:3082 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Nail dystrophy, Alopecia, Reticular hyperpigmentation, Sparse hair, Premature grayin... |
OMIM:127550 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Fine hair, Thick eyebrow |
OMIM:614800 |
| Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Hirsutism, Synophrys |
OMIM:252920 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Abnormal toenail morphology, Sparse hair, Hypohidrosis |
ORPHA:1005 |
| Distal Trisomy 6P |
|
Fine hair, Abnormal eyelash morphology, Abnormal hair quantity |
ORPHA:1745 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
| 2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Sparse hair |
ORPHA:251019 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Alopecia, Nail dysplasia, Reticulated skin pigmentation, Premature graying of hair |
OMIM:613990 |
| Hall-Riggs Syndrome |
|
Slow-growing hair, Coarse hair, Thick hair |
ORPHA:2107 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Curly eyelashes, Curly hair, Nail dysplasia, Thick eyebrow, Low poste... |
ORPHA:163654 |
| Leopard Syndrome 3 |
|
Low posterior hairline, Curly hair, Multiple lentigines, Few cafe-au-lait spots |
OMIM:613707 |
| Monosomy 18P |
|
Low posterior hairline, Alopecia |
ORPHA:1598 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia |
OMIM:158310 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Multiple cafe-au-lait spots |
ORPHA:85279 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Noonan Syndrome 5 |
|
Fine hair, Small nail, Sparse eyebrow, Curly hair, Multiple lentigines, Cafe-au-lait spot |
OMIM:611553 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Abnormal hair morphology, Sparse or absent eyelashes |
ORPHA:3130 |
| Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Hypoplastic nipples, Absent toenail, Brittle hair, Nail dystrophy, Reti... |
OMIM:305600 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Nail dystrophy, Alopecia, Hyperpigmentation of the skin |
OMIM:175500 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Nail dysplasia, Hypohidrosis |
OMIM:308205 |
| Hemochromatosis, Type 1 |
|
Hyperpigmentation of the skin, Alopecia |
OMIM:235200 |
| Noonan Syndrome 9 |
|
Curly hair, Sparse eyebrow |
OMIM:616559 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Fine hair, Alopecia |
ORPHA:228390 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Sparse body hair, Nail dystrophy, Hyperpigmentation of the skin, Absent eyelash... |
OMIM:106260 |
| Macs Syndrome |
|
Sparse and thin eyebrow, Sparse hair, Alopecia |
OMIM:613075 |
| Adrenoleukodystrophy |
|
Hyperpigmentation of the skin, Alopecia |
OMIM:300100 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism, Patent ductus arteriosus |
ORPHA:2095 |
| Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... |
ORPHA:1234 |
| Mucopolysaccharidosis, Type Iiic |
|
Coarse hair, Hirsutism, Synophrys |
OMIM:252930 |
| Noonan Syndrome 8 |
|
Curly hair, Hyperpigmentation of the skin, Patent ductus arteriosus |
OMIM:615355 |
| Revesz Syndrome |
|
Fine hair, Nail dystrophy, Fine, reticulate skin pigmentation, Ridged fingernail, Sparse hair, Na... |
OMIM:268130 |
| Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Coarse hair, Hirsutism, Synophrys |
OMIM:252940 |
| Fetal Hydantoin Syndrome |
|
Low posterior hairline, Coarse hair, Hypoplastic fingernail |
ORPHA:1912 |
| Tonne-Kalscheuer Syndrome |
|
Fine hair, Small nail |
OMIM:300978 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Fine hair, Sparse hair |
OMIM:614438 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
| Renpenning Syndrome 1 |
|
Sparse lateral eyebrow, Brittle hair, Sparse hair |
OMIM:309500 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair |
OMIM:617360 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Nail dystrophy, Alopecia |
OMIM:226600 |
| Immunodeficiency, Common Variable, 10 |
|
Alopecia totalis, Trachyonychia |
OMIM:615577 |
| Cartilage-Hair Hypoplasia |
|
Fine hair, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Sparse facial hair, Fair hair |
OMIM:250250 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Coarse hair, Sparse hair |
OMIM:118650 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Dystrophic fingernails, Generalized hyperpigmentation, Dystrophic toenail, Coar... |
ORPHA:1071 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Alopecia |
ORPHA:47 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Cafe-au-lait spot |
ORPHA:166035 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Nail dystrophy, Alopecia, Abnormal hair morphology, Hyperpigmentation of the skin |
ORPHA:90154 |
| Ane Syndrome |
|
Hyperpigmentation of the skin, Alopecia, Hyperpigmented nevi |
ORPHA:157954 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Sparse hair |
OMIM:616817 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alopecia of scalp,... |
ORPHA:35173 |
| Omenn Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia |
ORPHA:39041 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nail dystrophy, Alopecia, Vitiligo, Pigmentary retinopathy, Alopecia universalis |
OMIM:240300 |
| 19Q13.11 Microdeletion Syndrome |
|
Fine hair, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Super... |
ORPHA:217346 |
| Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Abnormality ... |
OMIM:308300 |
| Acrodermatitis Enteropathica |
|
