| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse and thin eyebrow, Sparse h... |
ORPHA:2722 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair |
OMIM:212835 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Decreased testicular size, Woolly hair |
OMIM:601217 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
| Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Nail pits |
OMIM:601705 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
| Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
| Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Abnormal testis morphology, Pili torti, Aplasia/Hypoplasia of ... |
ORPHA:202 |
| Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
| Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:232700 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... |
ORPHA:248 |
| Porphyria Cutanea Tarda |
|
Alopecia, Facial hypertrichosis, Onycholysis |
OMIM:176100 |
| Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp |
ORPHA:346 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse eyelashes, Small nail, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia |
OMIM:614564 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Long eyelashes, Cryptorchidism, Decreased response to growth hormone stimulation test, ... |
OMIM:275400 |
| Pseudopelade Of Brocq |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... |
ORPHA:129 |
| Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Developmental cataract, Decreased LDL cholesterol concentration |
OMIM:616834 |
| Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter, Nail dystrophy, Alopecia |
OMIM:618373 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... |
OMIM:610947 |
| Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair |
ORPHA:2251 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... |
ORPHA:1882 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Splenomegaly |
OMIM:610539 |
| Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... |
ORPHA:2890 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair |
OMIM:104100 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Pseudoprogeria Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair |
ORPHA:2985 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Nail dystrophy, Alopecia totalis |
OMIM:212360 |
| Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia |
ORPHA:50944 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow |
OMIM:607655 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Nail dystrophy, Alopecia |
ORPHA:79397 |
| 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 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Alopecia |
OMIM:617763 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplas... |
OMIM:607823 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Abnormal testis morphology, Abnormality of the nail, Generali... |
ORPHA:317 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal toenail morphology, Alopecia, Abnormality of the nail |
ORPHA:494 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Alopecia |
OMIM:615704 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... |
ORPHA:2325 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair |
OMIM:614594 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
| Idiopathic Trachyonychia |
|
Ridged nail, Circumungual hyperkeratosis, Thin nail, Nail dystrophy, Fingernail dysplasia, Fragil... |
ORPHA:79153 |
| Hypervitaminosis A, Susceptibility To |
|
Alopecia totalis |
OMIM:240150 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
| Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Nail dysplasia, Sparse an... |
OMIM:612843 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Premature ovarian insufficiency |
ORPHA:100025 |
| Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair |
OMIM:242300 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... |
ORPHA:2269 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Increased circulating cortisol level, A... |
OMIM:615830 |
| Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Alopecia, Atrichia, Cryptorchidism, Decreased testicular size, Congenital abnorma... |
ORPHA:1867 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertr... |
OMIM:612526 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly, Developmental cataract, Hypertrophic cardiomyopathy |
OMIM:618810 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Hypocholesterolemia, Increased circulating farnesol concentration, Elevate... |
OMIM:618156 |
| Cronkhite-Canada Syndrome |
|
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... |
ORPHA:2930 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia |
OMIM:618282 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair, Hydrocele testis |
ORPHA:69735 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:607765 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia |
ORPHA:50812 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Abnormal... |
ORPHA:3051 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Sparse hair |
ORPHA:1839 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
| Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail |
ORPHA:2584 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Small nail, Alopecia, Abnormal hair morphology, Thin nail |
OMIM:242100 |
| Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia |
OMIM:164180 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Hypoparathyroidism, Increased circulating cortisol level, Alopecia, Abnormal... |
ORPHA:3453 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Abnormal heart morphology, Maturity-onset diabetes of the young... |
ORPHA:99886 |
| Lichen Planopilaris |
|
Abnormal fingernail morphology, Alopecia, Onycholysis |
ORPHA:525 |
| Hemifacial Atrophy, Progressive |
|
Poliosis, Patchy alopecia |
OMIM:141300 |
| Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... |
ORPHA:978 |
| Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia |
ORPHA:3143 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Posterior pituitary hypoplasia, Nail dystrophy, Brittle ha... |
ORPHA:75389 |
| Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
| Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... |
ORPHA:251393 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
| Olmsted Syndrome, X-Linked |
|
Alopecia totalis, Subungual hyperkeratosis |
OMIM:300918 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyelashes, Thick hair, Alopecia, Sparse hair |
OMIM:607626 |
| Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly, Decreased circula... |
OMIM:618838 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Frontonasal Dysplasia 2 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia |
OMIM:613451 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Bathing Suit Ichthyosis |
|
Nail dystrophy, Alopecia, Sparse hair |
ORPHA:100976 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Endocardial fibroelastosis, Cardiomegaly... |
OMIM:212140 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Tangier Disease |
|
Coronary artery stenosis, Hypocholesterolemia, Left ventricular hypertrophy, Hepatosplenomegaly, ... |
ORPHA:31150 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus |
OMIM:618856 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
| Renpenning Syndrome |
|
Alopecia, Abnormal hair laboratory examination, Thin eyebrow, Decreased testicular size |
ORPHA:3242 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... |
OMIM:600649 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
| Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Fragile nails |
OMIM:242150 |
| Johnson Neuroectodermal Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse hair, Decreased testicular size |
OMIM:147770 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:255120 |
| Multiple Carboxylase Deficiency |
|
Alopecia |
ORPHA:148 |
| Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia |
ORPHA:2316 |
| Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Alopecia totalis, Anonychia, Absent fingernail |
OMIM:609638 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Alopecia, Onychogryposis |
ORPHA:79395 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse eyelashes, Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hai... |
OMIM:137940 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Brittle hair, Alopecia, Abnormality of hair texture, Sparse hair |
OMIM:608612 |
| Mandibulofacial Dysostosis With Alopecia |
|
Sparse and thin eyebrow, Sparse eyelashes, Alopecia |
OMIM:616367 |
| Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... |
ORPHA:3253 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Ty... |
ORPHA:96180 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Small nail, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili torti, Fragile nails |
OMIM:261990 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Mandibuloacral Dysplasia |
|
Alopecia, Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia... |
ORPHA:2457 |
| Bresek Syndrome |
|
Cryptorchidism, Alopecia, Decreased testicular size |
ORPHA:85284 |
| Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholestero... |
ORPHA:14 |
| Rapp-Hodgkin Syndrome |
|
Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Onychogryposis, Sp... |
OMIM:129400 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apo... |
OMIM:207750 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal fingernail morphology, Sparse hair, Alopecia |
ORPHA:659 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Glycosuria, Hyperlipidemia, Ketotic hypoglycemia |
ORPHA:2089 |
| Sézary Syndrome |
|
Nail dystrophy, Alopecia |
ORPHA:3162 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormal hair morphology, Hypoplasia of the ovary, Sparse or absent eye... |
ORPHA:3130 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Hirsutism, Hyperlipidemia, Increased circulating cortisol level... |
ORPHA:189427 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Decreased testicular size, Cryptorchidism |
ORPHA:85279 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Monosomy 18P |
|
Low posterior hairline, Alopecia |
ORPHA:1598 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... |
OMIM:604367 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Alopecia, Paronychia, Onychog... |
ORPHA:2309 |
| Macs Syndrome |
|
Sparse and thin eyebrow, Cryptorchidism, Sparse hair, Alopecia |
OMIM:613075 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Breast aplasia |
ORPHA:90153 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Alopecia |
OMIM:603554 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Nail dystrophy, Alopecia, Abnormal hair morphology, Hyperlipidemia |
ORPHA:90154 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericardial effusion, Hypocholesterolemia, Cardiomyopathy, Hypoalbuminemia |
OMIM:212065 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Nail dystrophy, Alopecia, Sparse hair, Premature graying of hair, Nail pits |
OMIM:127550 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Alopecia |
OMIM:235200 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Alopecia of scalp, Streak ovary, Alopecia, Abnormal eyebrow morphology, Sparse pubic hair, Increa... |
ORPHA:2232 |
| Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test, Alopecia |
OMIM:601853 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Alopecia, Polycystic ovaries, Abnormal testis morphology, Abnormal hair quantity, Testicu... |
ORPHA:457059 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Nail dystrophy, Alopecia, Cholelithiasis, Premature ovarian insufficiency, Al... |
OMIM:240300 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Nail dystrophy, Alopecia, Alopecia totalis, Decreased response ... |
ORPHA:293978 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Fine hair, Cryptorchidism, Alopecia |
ORPHA:228390 |
| Gapo Syndrome |
|
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Alopecia, Sparse eyebrow, Nail dysplasia, Bre... |
OMIM:230740 |
| Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... |
ORPHA:1234 |
| Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia |
OMIM:158310 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Nail dystrophy, Alopecia |
OMIM:175500 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Alopecia totalis, Trachyonychia |
OMIM:615577 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Hypocholesterolemia, Atrial septal defect, Astigmatism, Microcornea |
OMIM:244450 |
| Ane Syndrome |
|
Alopecia, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Decreased response to growth h... |
ORPHA:157954 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Alopecia, Nail dysplasia, Cryptorchidism, Premature graying of hair |
OMIM:613990 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Cryptorchidism |
ORPHA:166035 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Hirsutism, Hyperlipidemia, Increased circulating cortisol level, Alopecia, P... |
ORPHA:189439 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal toenail morphology, Sparse hair, Alopecia |
ORPHA:1005 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Nail dysplasia, Cryptorchidism |
OMIM:308205 |
| Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Recurrent hypoglyc... |
ORPHA:79324 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Alopecia, Decreased testicular size |
ORPHA:453533 |
| Omenn Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia |
ORPHA:39041 |
| Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sparse eyelashes, Small nail, Alopecia, Absent eyebrow, Sparse eyebrow, Absent eyelashes, Bilater... |
ORPHA:544488 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Nail dystrophy, Alopecia |
OMIM:226600 |
| X-Linked Agammaglobulinemia |
|
Alopecia |
ORPHA:47 |
| Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
| Oculocerebrocutaneous Syndrome |
|
Abnormal fingernail morphology, Cryptorchidism, Alopecia |
ORPHA:1647 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Alopecia, Abnormal eyebrow morphology, Abnormality of the nail, Paronychia, Ridged f... |
ORPHA:37 |
| Woodhouse-Sakati Syndrome |
|
Fine hair, Hyperlipidemia, Alopecia, Elevated circulating thyroid-stimulating hormone concentrati... |
OMIM:241080 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism |
ORPHA:93160 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, Absent fingernail, Sparse hair |
ORPHA:974 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypercholesterolemia, Hypertriglyceridemia, Alopecia universali... |
ORPHA:363618 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia |
ORPHA:412057 |
| Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyebrow, Absent eyelashes, Absen... |
ORPHA:158687 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia |
OMIM:302960 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... |
ORPHA:552 |
| Gapo Syndrome |
|
Early balding, Sparse and thin eyebrow, Sparse eyelashes, Alopecia |
ORPHA:2067 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Hyperlipidemia |
OMIM:248370 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Anonychia, Sparse eyelashes, Nail dystrophy, Absent eyelashes, Hyperconvex nail, Patchy alopecia,... |
OMIM:106260 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Hirsutism, Alopecia, Polycystic ovaries, Decreased circulating cor... |
ORPHA:90795 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Steatorrhea |
OMIM:269200 |
| Alstrom Syndrome |
|
Multinodular goiter, Decreased response to growth hormone stimulation test, Alopecia, Hypertrigly... |
OMIM:203800 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Abnormal circulating lipid c... |
ORPHA:2298 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Sparse eyelashes, Annular pancreas, Nail dystrophy, Alopecia, Sparse eyebrow, Absent eyebrow, Abs... |
OMIM:268400 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Hypertriglyceridemia |
ORPHA:98907 |
| Danon Disease |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Secondary Intestinal Lymphangiectasia |
|
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... |
ORPHA:90363 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Low posterior hairline, Alopecia, Neoplasm of the pancreas, Premature ovarian insufficiency |
ORPHA:2959 |
| H Syndrome |
|
Hypertrichosis, Alopecia, Abnormal eyebrow morphology, Hypertriglyceridemia, Decreased testicular... |
ORPHA:168569 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia |
OMIM:163200 |
| Mogs-Cdg |
|
Hirsutism, Alopecia, Long eyelashes, Fair hair, Hydrocele testis |
ORPHA:79330 |
| Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Alopecia, Absent eyebrow, Cholelithiasis, Loss of eyelashes |
OMIM:263700 |
| Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... |
OMIM:238600 |
| Distal Monosomy 19P13.3 |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Alopecia |
OMIM:613001 |
| Incontinentia Pigmenti |
|
Broad nail, Abnormal hair morphology, Dystrophic toenail, Alopecia, Abnormal toenail morphology, ... |
ORPHA:464 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alopecia of scalp,... |
ORPHA:35173 |
| Limb-Mammary Syndrome |
|
Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilateral breast hypoplasia,... |
ORPHA:69085 |
| Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop... |
OMIM:308300 |
| Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Cryptorchidism,... |
ORPHA:2108 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Cholelithiasis |
OMIM:618775 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis, Secondary hyperparathyroidism |
OMIM:277440 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
| Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Steatorrhea |
OMIM:212750 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Patchy alopecia |
OMIM:606367 |
| Mixed Connective Tissue Disease |
|
Alopecia |
ORPHA:809 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Atrial septal defe... |
OMIM:270400 |
| Autosomal Dominant Hypocalcemia |
|
Abnormal fingernail morphology, Alopecia, Abnormality of the nail |
ORPHA:428 |
| Linear Nevus Sebaceus Syndrome |
|
Adenoma sebaceum, Alopecia |
ORPHA:2612 |
| Dyskeratosis Congenita |
|
White hair, Nail dystrophy, Alopecia, Neoplasm of the pancreas, Abnormal eyebrow morphology, Abno... |
ORPHA:1775 |
| Knobloch Syndrome 1 |
|
Alopecia |
OMIM:267750 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Sparse scalp hair, Sparse and thin eyebrow |
OMIM:614008 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Alopecia, Abnormality of the nail |
OMIM:308050 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
| Giant Cell Arteritis |
|
Alopecia |
ORPHA:397 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:151660 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hyperlipidemia, Decreased response to growth hormone stimulation test, Alopecia, Pr... |
ORPHA:3464 |
| Leigh Syndrome |
|
Frontal hirsutism, Hypertrichosis, Alopecia |
ORPHA:506 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cryptorchidism, Alopecia, Hypertriglyceridemia |
ORPHA:536532 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Ovarian cyst, Pancreatic cysts, Alopecia |
OMIM:311200 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Scleroderma |
|
Alopecia |
ORPHA:801 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Nail dystrophy, Alopecia, Onychogryposis |
ORPHA:79396 |
| Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Central diabetes insipidus, Alopecia, Anterior pituitary dysgenesis |
ORPHA:227990 |
| Rothmund-Thomson Syndrome |
|
Small nail, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Nail dysplasia, Abnormality of th... |
ORPHA:2909 |
| Bartsocas-Papas Syndrome 1 |
|
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Alopecia totalis, Bilateral cryptorchidis... |
OMIM:263650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Thick eyebrow, Cryptorchidism, Patchy alopecia, Decreased testicular size |
OMIM:300534 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Central diabetes insipidus, Alopecia, Anterior pituitary dysgenesis |
ORPHA:227982 |
| Dyskeratosis Congenita, X-Linked |
|
Sparse eyelashes, Split nail, Ridged nail, Nail dystrophy, Alopecia, Pterygium of nails, Cryptorc... |
OMIM:305000 |
| Juvenile Dermatomyositis |
|
Alopecia |
ORPHA:93672 |
| Focal Dermal Hypoplasia |
|
Alopecia, Abnormality of the nail |
ORPHA:2092 |
| Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Brittle hair, Coarse hair, Alopecia, Sparse hair |
ORPHA:2750 |
| Systemic Sclerosis |
|
Nail bed telangiectasia, Alopecia |
ORPHA:90291 |
| Atypical Werner Syndrome |
|
Ovarian neoplasm, Abnormal hair morphology, Alopecia, Abnormal hair quantity, White forelock, Abn... |
ORPHA:79474 |
| Leprosy |
|
Alopecia, Absent eyebrow, Testicular mass, Loss of eyelashes, Sparse body hair |
ORPHA:548 |
| Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Nail dysplasia, Premature ovarian insufficiency, Sparse or absent eyelashes, Cr... |
ORPHA:221008 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Nail dystrophy, Alopecia |
ORPHA:37042 |
| Adams-Oliver Syndrome 1 |
|
Small nail, Alopecia, Supernumerary nipple |
OMIM:100300 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Abnormal eyelash morphology |
ORPHA:2396 |
| Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
| Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Nail dysplasia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:221016 |
| Autosomal Dominant Robinow Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Curly eyelashes, Long eyelashes, Alopecia, Ri... |
ORPHA:3107 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Thin fingernail, Abnormal hair morphology, Thin eyebrow, Alopecia, Absent eyebrow, Hyperconvex fi... |
ORPHA:2273 |
| Xeroderma Pigmentosum |
|
Cryptorchidism, Alopecia, Decreased testicular size |
ORPHA:910 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Alopecia universalis, Nail dystrophy, Sparse hair |
ORPHA:158668 |
| Autosomal Recessive Robinow Syndrome |
|
Fingernail dysplasia, Cryptorchidism, Alopecia, Long eyelashes |
ORPHA:1507 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Decreased testicular size, Hypoplasia of the ovary |
OMIM:619321 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Pineal cyst, Decreased response to growth hormone stimulation test, Alopecia, Cryptorchidism, Fai... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Pineal cyst, Decreased response to growth hormone stimulation test, Alopecia, Cryptorchidism, Fai... |
ORPHA:363958 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Nail dystrophy, Alopecia, Abnormality of the nail, Paronychia, Anonychia |
ORPHA:79404 |
| Steinert Myotonic Dystrophy |
|
Testicular atrophy, Early balding, Alopecia, Secondary hyperparathyroidism, Cholelithiasis, Hyper... |
ORPHA:273 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Thin eyebrow, Alopecia, Loss of eyelashes, Cryptorchidism, Sparse hair |
ORPHA:2636 |
| Relapsing Polychondritis |
|
Alopecia |
ORPHA:728 |
| Localized Scleroderma |
|
Patchy alopecia, Abnormality of skin adnexa morphology |
ORPHA:90289 |
| Ring Chromosome 13 Syndrome |
|
Alopecia, Hypoplasia of the gallbladder |
ORPHA:96176 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Abnormality of the ovary, Hyperlipidemia, Abnormal fingernail morphology, Alopecia, Increased cir... |
ORPHA:99413 |
| Turner Syndrome |
|
Abnormality of the ovary, Hyperlipidemia, Abnormal fingernail morphology, Alopecia, Increased cir... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Abnormality of the ovary, Hyperlipidemia, Abnormal fingernail morphology, Alopecia, Increased cir... |
ORPHA:99228 |
| Monosomy X |
|
Abnormality of the ovary, Hyperlipidemia, Abnormal fingernail morphology, Alopecia, Increased cir... |
ORPHA:99226 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ventricular septal defect, Truncus arteriosus, Hyperglycemia, Hypoplastic tricuspid valve, Double... |
OMIM:600001 |
| Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Alopecia |
ORPHA:50918 |
| Chronic Graft Versus Host Disease |
|
Nail dystrophy, Alopecia, Onycholysis |
ORPHA:99921 |
| African Trypanosomiasis |
|
Abnormal prolactin level, Alopecia, Abnormality of circulating cortisol level |
ORPHA:3385 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic fingernails, Dystrophic toenail, Alopecia totalis, Absent eyebrow, Loss of eyelashes, ... |
ORPHA:740 |
| Focal Dermal Hypoplasia |
|
Hypoplastic nipples, Absent toenail, Nail dystrophy, Brittle hair, Abnormality of hair texture, N... |
OMIM:305600 |
| Sarcoidosis |
|
Enlargement of parotid gland, Alopecia, Enlarged lacrimal glands, Parotitis |
ORPHA:797 |
| Viss Syndrome |
|
Sparse scalp hair, Alopecia, Hirsutism |
OMIM:619472 |
| Pallister-Killian Syndrome |
|
Sparse eyelashes, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse anterior scalp hair, Sparse... |
OMIM:601803 |
| Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Abnormality of hair texture, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Abnorma... |
ORPHA:286 |
