| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Angioedema Induced By Ace Inhibitors, Susceptibility To |
|
Angioedema |
OMIM:300909 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation |
OMIM:620199 |
| Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Dissecting Cellulitis Of The Scalp |
|
Abnormal hair morphology, Edema |
ORPHA:345 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Angioedema, Hereditary, 5 |
|
Nailfold capillary tortuosity, Edema of the dorsum of hands, Facial edema, Angioedema, Nail bed h... |
OMIM:619361 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Alopecia totalis, Abnormality of the nail, Death in childhood |
OMIM:302000 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,... |
ORPHA:1818 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Hairy Elbows |
|
Elbow hypertrichosis |
OMIM:139600 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Ascites |
ORPHA:100025 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... |
ORPHA:401911 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Death in childhood |
OMIM:256150 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Chylous Ascites |
|
Ascites, Abnormal intestine morphology, Lymphedema |
ORPHA:1160 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Irritability, Polydipsia, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia, Hypernatremia |
OMIM:304800 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... |
OMIM:104100 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Hydrops fetalis, Death in infancy |
OMIM:619433 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, Onych... |
ORPHA:2251 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... |
ORPHA:1433 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... |
ORPHA:90363 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Pseudomyxoma Peritonei |
|
Intestinal obstruction, Ascites, Hernia, Inflammation of the large intestine |
ORPHA:26790 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair |
OMIM:275400 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... |
OMIM:607624 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-lait spot |
OMIM:618625 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
| Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Pleural... |
ORPHA:1041 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Polyhydramnios |
OMIM:616868 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Decreased intestinal transit... |
OMIM:620045 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... |
ORPHA:79402 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... |
OMIM:607823 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Leukocytosis, H... |
ORPHA:94093 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Anorexia, Depression |
ORPHA:178029 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Ectodermal dysplasia, Fingernail dysplasia, Thin skin, Trichodysplasia, Toenai... |
ORPHA:1660 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Generalized edema, Abdominal pain, Abdominal distention, Peripheral edema, P... |
ORPHA:64739 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Ascites, Edema |
OMIM:603278 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Stillbirth, Edema, Pedal edema |
OMIM:152800 |
| Ovarian Fibrothecoma |
|
Abdominal pain, Abdominal distention, Pleural effusion, Ascites, Hirsutism |
ORPHA:314478 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom... |
ORPHA:381 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... |
ORPHA:100924 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites |
OMIM:174050 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Gonadoblastoma |
|
Abdominal distention, Hirsutism, Abdominal pain |
ORPHA:206484 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites |
ORPHA:2414 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Lipoatrophy, Sparse hair, Intestinal malrotation |
ORPHA:2301 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Hyperam... |
ORPHA:3008 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Abdominal distention, Hydrops fetalis, Stillbirth |
OMIM:600972 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Fg Syndrome 3 |
|
Death in infancy, Fine hair, Feeding difficulties, Chronic constipation, Frontal upsweep of hair,... |
OMIM:300406 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites |
ORPHA:890 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair |
ORPHA:1810 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
| Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting |
ORPHA:313906 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Pigmentary retinopathy, Alopecia, Long eyelashes |
ORPHA:3363 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Ascites, Hydrops fetalis, Polyhydramnios |
ORPHA:2123 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eye... |
ORPHA:50944 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sp... |
ORPHA:59303 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Ectodermal dysplasia, Constipation |
OMIM:273390 |
| Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal edema, U... |
ORPHA:87876 |
| Splenoportal Vascular Anomalies |
|
Splenomegaly, Ascites |
OMIM:271500 |
| Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly, Arthrogryposis mult... |
OMIM:232500 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios |
ORPHA:1046 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair |
ORPHA:1264 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Adiposis Dolorosa |
|
Abdominal distention, Constipation, Painful subcutaneous lipomas |
OMIM:103200 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Feeding difficulties, Thin skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Oligohydramnios |
ORPHA:261304 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Steatorrhea, Hematochezia, Prote... |
ORPHA:2070 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Splenomegaly, Pleural effusion, Ascites, Hyperpigmentation of the skin |
OMIM:235200 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair |
ORPHA:1897 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Malignant Peritoneal Mesothelioma |
|
Ascites, Ileus, Pedal edema |
ORPHA:168811 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
| Perching Syndrome |
|
Cyanosis, Dysphagia, Feeding difficulties |
OMIM:617055 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Ectodermal dysplasia |
OMIM:613576 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Neona... |
OMIM:620014 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Anorexia, Abdominal pain, Lymphedema, Hypoplastic toena... |
ORPHA:2930 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,... |
ORPHA:1807 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Bazex-Dupre-Christol Syndrome |
|
Hyperpigmentation of the skin, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrh... |
OMIM:301845 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
| Yellow Nail Syndrome |
|
Yellow nails, Slow-growing nails, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Edema, Polyhydramnios, Feeding difficulties, Low posterior hairline, W... |
OMIM:613224 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Ch... |
OMIM:300953 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Diarrhea, Chronic diarrhea, Bloody diarrhea, Uncombable hair, Colitis, Sparse hair,... |
OMIM:614602 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites |
OMIM:301045 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality... |
ORPHA:848 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Edema, Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Neon... |
OMIM:608104 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Depression |
ORPHA:163921 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Edema, Abdominal pain, Pericardial effusion, Abdominal distention, Diarrhea, Vomiting, ... |
ORPHA:93552 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites |
OMIM:619463 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Wolman Disease |
|
Hepatomegaly, Splenomegaly, Esophageal varix, Steatorrhea, Ascites |
ORPHA:75233 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Ascites, Acholic ... |
OMIM:615710 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... |
OMIM:616843 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Malabsorption, Splenomegaly, E... |
ORPHA:131 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Polyhydramnios, Lymphedema, Abdominal distention, Ascites, Hepatic failure, Hyp... |
OMIM:235255 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Polyhydramnios |
OMIM:619602 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... |
OMIM:613662 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Pleural effusion, Ascites, Oligohydramnios |
OMIM:614702 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Feeding difficulties in infancy, Chronic diarrhea, Pedal edema, Ectodermal dysplas... |
ORPHA:98813 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Abnormal intestine morphology, Intest... |
OMIM:226300 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Hidrotic ectodermal dysplasia |
ORPHA:1883 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Nail dystrophy, Atrichia, Acrocyanosis |
ORPHA:1867 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Abnormal hair mor... |
ORPHA:2963 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Feeding difficulties |
OMIM:610992 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
| Thyroid Hemiagenesis |
|
Abdominal distention, Jaundice, Constipation |
ORPHA:95719 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Ascites, Edema |
OMIM:611719 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... |
OMIM:614941 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Lelis Syndrome |
|
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Vi... |
ORPHA:140936 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Excessive wrinkled skin,... |
ORPHA:3051 |
| Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema |
ORPHA:83452 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
| Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis |
ORPHA:834 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia |
ORPHA:103910 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites |
ORPHA:858 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Depression |
ORPHA:83601 |
| Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Hypertonic dehydration |
OMIM:606824 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Dehydration, D... |
OMIM:615237 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... |
OMIM:234050 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Snakebite Envenomation |
|
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia |
ORPHA:449285 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:256550 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
| Even-Plus Syndrome |
|
Sparse hair, Synophrys, Highly arched eyebrow, Oligohydramnios |
OMIM:616854 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Cutaneous photosensitivity, Death in childhood |
OMIM:610756 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Polyhydramnios, Scarring alopecia of scalp, Abdominal distention, Skin fragility with non-scarrin... |
ORPHA:158684 |
| Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
| Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail, Edema |
ORPHA:2584 |
| Congenital Heart Block |
|
Cyanosis, Feeding difficulties in infancy, Pericardial effusion, Hydrops fetalis, Peripheral edem... |
ORPHA:60041 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Fine hair, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Splenomegaly, Hepatomegaly, Ascites, Malabsorption |
OMIM:602347 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy |
OMIM:616353 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
| Athyreosis |
|
Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Death in adolescence... |
OMIM:605676 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Hydrops fetalis, Cellulitis, Ascites |
ORPHA:90308 |
| Achondrogenesis Type 1A |
|
Abdominal distention, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Polyhydramnios, Abdominal distention, Bloody diarrhea, N... |
ORPHA:436252 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Sialuria |
|
Synophrys, Low posterior hairline, Hypoplastic nipples, Protuberant abdomen, Generalized hirsutis... |
OMIM:269921 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Polyhydramnios, Cafe-au-lait spot, Multiple lentigi... |
OMIM:615280 |
| Familial Atrial Myxoma |
|
Ascites, Pedal edema |
ORPHA:615 |
| Donohue Syndrome |
|
Abdominal distention, Nail dysplasia, Hypertrichosis |
OMIM:246200 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Ectodermal dysplasia, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79273 |
| Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
| Mulibrey Nanism |
|
Hepatomegaly, Hydrops fetalis, Microglossia, Ascites, Enamel hypoplasia |
OMIM:253250 |
| Rodrigues Blindness |
|
Sparse hair, Ectodermal dysplasia, Fine hair |
OMIM:268320 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Brittle hair, Trichoschisis, Chronic diarrhea, Fine hai... |
OMIM:601675 |
| Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Abnormality of subcutaneous fat tissue, Edema, Hydrops... |
ORPHA:79325 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Feeding difficulties, Fine hair |
ORPHA:251019 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Generalized hirsutism, Abnormality of the nail |
ORPHA:317 |
| Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Fetal ascites, Hydrops fetalis, Polyhydramnios |
OMIM:215045 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Pericardial effusion, Functional abnorma... |
ORPHA:90362 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Flexion contracture, Esophageal varix, H... |
ORPHA:367 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin... |
ORPHA:298 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Leukonychia, Pleural effusion, Ascites, Visceromegaly, Hyperpigmenta... |
ORPHA:2905 |
| Lamellar Ichthyosis |
|
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Dehydration |
ORPHA:313 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Edema, Hepatosplenomegaly, Generalized hypertrichosis, Ascites |
ORPHA:93400 |
| Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Death in childhood |
OMIM:309400 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Qazi-Markouizos Syndrome |
|
Chronic constipation, Abdominal distention, Small nail |
ORPHA:3010 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Feeding difficulties, Oligohydramnios, Dysphagia |
OMIM:618253 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia |
OMIM:615704 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Abdominal distention, Protuberant abdomen |
OMIM:277300 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Abdominal distention, Hepatic failure, Ascites, Hypertrichosis |
ORPHA:1655 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Ascites, Hypoplastic fing... |
ORPHA:974 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
| Small Bowel Atresia |
|
Abdominal distention, Vomiting, Feeding difficulties |
ORPHA:1201 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Anhidrotic ectodermal ... |
OMIM:129400 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Synophrys, Thick eyebrow |
OMIM:611091 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... |
OMIM:224900 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, White hair, Thick eyebrow |
ORPHA:896 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| High Altitude Pulmonary Edema |
|
Nausea and vomiting, Cyanosis, Anorexia, Hypoxemia, Pulmonary edema |
ORPHA:330012 |
| Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Hepatomegaly, Ascites, Hepatosplenomegaly |
OMIM:615122 |
| Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux, Dysphagia,... |
ORPHA:779 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
| Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
OMIM:212750 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen, Prolong... |
ORPHA:226313 |
| Sepsis In Premature Infants |
|
Cyanosis, Edema, Abdominal distention, Jaundice, Gastrointestinal dysmotility, Diarrhea, Enteroco... |
ORPHA:90051 |
| Whipple Disease |
|
Hyponatremia, Anorexia, Splenomegaly, Depression, Polydipsia, Anemia |
ORPHA:3452 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Feeding difficulties, Sparse or absent eyelashes, Thin skin, Nai... |
ORPHA:217346 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Tempi Syndrome |
|
Transudative pleural effusion, Ascites |
ORPHA:284227 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Anorexia, Eosinophilia, Hyperk... |
ORPHA:199299 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Facial edema, Pedal edema, Anasarca, Pleural effusion, Ascites |
ORPHA:567546 |
| Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Polyhydramnios, Death in childhood |
OMIM:619334 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Abdominal distention |
OMIM:613885 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Ectodermal dysplasia, Aplasia of the eccrine sweat glands, Lymphedema |
OMIM:300291 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl |
ORPHA:2872 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Abdominal distention, Nail dystrophy, Polyhydramnios |
ORPHA:79403 |
| Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Dehydr... |
ORPHA:95427 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Flexion contracture, Hydrops fetalis, Cleft palate, Pleural effusion, Ascites |
OMIM:616897 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
| Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis |
OMIM:609638 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Ectodermal dysplasia, Dystrophic toenail, Nail dystro... |
ORPHA:3253 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Splenomegaly, Esophageal varix, Gastric varix, Hepatocellular carcin... |
ORPHA:64743 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Polyhydramnios, Splenomegaly, Cafe-au-lait spot, Hypopigm... |
OMIM:618541 |
| Adiposis Dolorosa |
|
Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, Diarrhea, Xerostomia, Consti... |
ORPHA:36397 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Ileus, Ascites |
ORPHA:83469 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Nonimmune hydrops fetalis, Sparse e... |
OMIM:137940 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair, Dysphagia |
OMIM:620001 |
| Infant Botulism |
|
Hyponatremia, Anorexia, Dysphagia |
ORPHA:178478 |
| Fraser Syndrome 3 |
|
Stillbirth, Ascites, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617667 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Premature graying of hair... |
ORPHA:79477 |
| Achondrogenesis, Type Ii |
|
Polyhydramnios, Edema, Hydrops fetalis, Stillbirth, Protuberant abdomen |
OMIM:200610 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, J... |
OMIM:613070 |
| Acrocephalopolydactyly |
|
Protuberant abdomen |
ORPHA:221054 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sparse hair |
OMIM:607626 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Protuberant abdomen |
ORPHA:457485 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... |
ORPHA:2131 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ascites, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617021 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Abnormality of the nail |
ORPHA:621 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Prominent superficial veins, Fine hair |
OMIM:616817 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
| Cap Polyposis |
|
Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
| Kasabach-Merritt Syndrome |
|
Abdominal pain, Abdominal distention, Hypertrichosis, Petechiae, Purpura |
ORPHA:2330 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased c... |
ORPHA:95409 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Prominent superficial blood vessels, Episodic vomiting, Thin skin |
OMIM:219150 |
| Niemann-Pick Disease, Type A |
|
Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen, Prolonged neonatal ... |
OMIM:257200 |
| Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse hair |
ORPHA:2316 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Nasogastric tube feed... |
OMIM:106260 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
| Necrotizing Enterocolitis |
|
Edema, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting, Ascites |
ORPHA:391673 |
| Agel Amyloidosis |
|
Edema, Xerostomia, Blepharochalasis, Nail dystrophy, Sparse hair, Bruising susceptibility, Dermat... |
ORPHA:85448 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Progeroid facial appearance |
OMIM:617763 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Frontal hirsutism, Cyanosis |
ORPHA:3304 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Chronic constipation, Gastroesophageal reflux, Hyperconvex nail |
OMIM:619721 |
| Functioning Gonadotropic Adenoma |
|
Ascites, Abnormality of secondary sexual hair |
ORPHA:91348 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb... |
ORPHA:1010 |
| Classic Galactosemia |
|
Hepatomegaly, Ascites |
ORPHA:79239 |
| Nephrotic Syndrome, Type 1 |
|
Abdominal distention, Gastroesophageal reflux, Edema |
OMIM:256300 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Anemia |
ORPHA:97362 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Erythema, Abnormal fingernail morphology |
ORPHA:659 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Feeding difficulties |
OMIM:614105 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Edema |
OMIM:253310 |
| Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow |
ORPHA:884 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Pigmentary retinopathy |
OMIM:268020 |
| Lymphatic Malformation 13 |
|
Neonatal death, Ascites, Nonimmune hydrops fetalis, Lymphedema |
OMIM:620244 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Neonat... |
OMIM:608013 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
| Sézary Syndrome |
|
Alopecia, Nail dystrophy, Edema |
ORPHA:3162 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
| Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Lymphopenia, Anorexia |
ORPHA:549 |
| Perlman Syndrome |
|
Distal ileal atresia, Polyhydramnios, Edema, Congenital diaphragmatic hernia, Volvulus, Ascites, ... |
OMIM:267000 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent... |
OMIM:608612 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
| Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline |
ORPHA:284180 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Feeding difficulties in infancy, Thick eyebrow |
ORPHA:127 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Pleural effusion, Ascites |
OMIM:617397 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Long eyebrows |
OMIM:614407 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Synophrys, Low anterior hairline, Fine hair, Sparse hair |
ORPHA:391408 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Hip contracture, Limb joint contracture, Nonimmune hydrops fetalis, Polyhydramnios,... |
OMIM:620369 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Erythema, Fine h... |
OMIM:257980 |
| Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
| Noonan Syndrome 14 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Low posterior hairline, Webbed neck, Sparse hair, Bru... |
OMIM:619745 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Oligohydramnios, Hypoperistalsis |
OMIM:619365 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Oligohydramnios |
OMIM:614219 |
| Fanconi Anemia, Complementation Group S |
|
Sparse hair, Long eyelashes, Low anterior hairline |
OMIM:617883 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ascites |
ORPHA:99828 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Protuberant abdomen, Alopecia universalis |
OMIM:277440 |
| Bainbridge-Ropers Syndrome |
|
Death in infancy, Highly arched eyebrow, Supernumerary nipple, Polyhydramnios, Synophrys, Hirsuti... |
OMIM:615485 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79473 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatosplenomegaly, Ascites, Malabsorption |
ORPHA:98850 |
| Gracile Bone Dysplasia |
|
Death in infancy, Ascites |
OMIM:602361 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Splenomegaly, Ulcerative colitis, Inflammation of the large intestin... |
ORPHA:2137 |
| Cirrhosis, Familial |
|
Ascites, Esophageal varix |
OMIM:215600 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Feeding difficulties in infancy, Gastrostomy tube feeding in infancy, Cyanotic episode, Nasogastr... |
ORPHA:284417 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
| Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology |
ORPHA:525 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Cutis marmorata, Erythema, Livedo reticularis, Telangiectasia, Nai... |
OMIM:615934 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Joubert Syndrome 37 |
|
Sparse hair, Hepatomegaly |
OMIM:619185 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormality of skin pigmentation, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Mandibuloacral Dysplasia |
|
Alopecia, Increased subcutaneous truncal adipose tissue, Thin skin, Sparse hair, Hypoplastic fing... |
ORPHA:2457 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Intermittent jaundice, Facial ... |
ORPHA:100085 |
| Mucopolysaccharidosis, Type Vii |
|
Hirsutism, Hydrops fetalis, Coarse hair, Protuberant abdomen, Thick eyebrow |
OMIM:253220 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Omphalocele, Hypoplasia of the small intestine, Ascites |
OMIM:200995 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain, Ascites |
ORPHA:370348 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Lymphedema, Abnormal eyelash morphology, Feeding difficulties in... |
ORPHA:1340 |
| Addison Disease |
|
Hyponatremia, Normocytic anemia, Salt craving, Hypercalcemia, Anorexia, Thiamine-responsive megal... |
ORPHA:85138 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Feeding difficulties in infancy, Abdominal distention, Intestinal pseudo-obstruction, Vomiting |
OMIM:300048 |
| Shigellosis |
|
Hyponatremia, Anorexia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolyti... |
ORPHA:810 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Abdominal pain, Abnormality of the subungual region, Bruising susceptibility, Subcutane... |
ORPHA:335 |
| Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Dehydration, Vomiting |
ORPHA:92050 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
| Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia, Poor appetite |
ORPHA:3163 |
| Lead Poisoning |
|
Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Constipation, Abdominal cr... |
ORPHA:330015 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Fine hair, Excessive wrinkled skin, Thin skin, Sparse hair |
OMIM:614438 |
| Meckel Syndrome 14 |
|
Cyanosis, Abdominal distention, Increased nuchal translucency, Protuberant abdomen, Oligohydramnios |
OMIM:619879 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Laryngotracheal Angioma |
|
Cyanosis, Vomiting, Feeding difficulties |
ORPHA:137935 |
| Monosomy 18P |
|
Alopecia, Low posterior hairline, Lymphedema |
ORPHA:1598 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic diarrhea, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chr... |
OMIM:158310 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention, Jaundice |
OMIM:618528 |
| Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
| Panhypophysitis |
|
Hyponatremia, Polydipsia, Normochromic anemia |
ORPHA:95513 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae |
OMIM:602473 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair |
OMIM:616200 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of toe, Ascites, Camptodactyly of finger |
ORPHA:2848 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Sparse eyelashes, Feeding difficulties in infancy, Sparse ey... |
OMIM:613026 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis, Protuberant abdomen |
OMIM:269250 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... |
OMIM:268130 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain |
OMIM:277320 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Patchy alopecia, Sparse hair |
OMIM:302960 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Gastroesophageal reflux, Abdominal distention, Feeding difficulties |
OMIM:620275 |
| 46,Xy Sex Reversal 6 |
|
Hirsutism, Sparse axillary hair |
OMIM:613762 |
| Fraser Syndrome 2 |
|
Abdominal distention, Low anterior hairline, Oligohydramnios |
OMIM:617666 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Pedal edema, Ascites |
ORPHA:77259 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Protuberant abdomen, Fine hair |
OMIM:242900 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Intestinal malrotation, Edema, Hamartoma of tongue, P... |
OMIM:269860 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Coarse hair, Breast ... |
OMIM:308300 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Sparse axillary hair, Lymphedema, Pericardial effusion, Pyloric stenosis... |
ORPHA:2136 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair, Oligohydramnios |
ORPHA:228390 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema |
OMIM:115197 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Anorexia |
ORPHA:361 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:70587 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Peripheral edema, Ascites, Pulmonary edema |
ORPHA:57777 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
| Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Fine hair, Premature graying of hair, Intestinal bleeding, Nail dystrophy... |
OMIM:612199 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Abdominal distention, Death in childhood |
OMIM:619423 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Polyhydramnios, Abdominal pain, Abdominal distentio... |
OMIM:155310 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Polyhydramnios |
OMIM:619362 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal death, Polyhydramnios, Protuberant abdomen |
OMIM:187600 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Peripheral edema, Pleural effusion |
ORPHA:79126 |
| Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Edema |
ORPHA:2302 |
| Scarf Syndrome |
|
Sparse hair, Webbed neck, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Oligohydramnios |
OMIM:613451 |
| Mogs-Cdg |
|
Alopecia, Generalized edema, Polyhydramnios, Edema, Long eyelashes, Fair hair, Hirsutism, Pulmona... |
ORPHA:79330 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Feeding difficulties, Small nail, Sparse hair, High anterior ha... |
OMIM:250410 |
| Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
| Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Ectodermal dysplasi... |
OMIM:103285 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis, Vomiting, Abdominal pain |
ORPHA:464453 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Constipation, Sparse hair, Fair ... |
OMIM:250250 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Episodic abdominal pain, Intermittent jaundice, Ascites, Nausea |
ORPHA:100086 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Abnormal subcutaneous fat tissue distribution, Prominent veins on trunk, Feeding diff... |
ORPHA:357074 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Polyhydramnios, Feeding difficulties in inf... |
OMIM:617506 |
| Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Dehydration |
ORPHA:2290 |
| Macs Syndrome |
|
Alopecia, Palpebral edema, Sparse eyebrow, Sparse hair, Bruising susceptibility |
OMIM:613075 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Anhidrotic ectodermal dysplasia, Chronic diarrhea, Aplasia of the sweat glands... |
OMIM:612132 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... |
ORPHA:275761 |
| Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Hypopigmented skin patches, Nail dystrophy, Abnormality of the na... |
ORPHA:678 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Peripheral edema, D... |
ORPHA:85443 |
| Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
| Fibrochondrogenesis 1 |
|
Hypoplastic toenails, Hydrops fetalis, Stillbirth, Protuberant abdomen, Hypoplastic fingernail |
OMIM:228520 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod... |
OMIM:150400 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Polyhydramnios, Lymphedema, Fine hair, Low posterior hairline, Chylothorax... |
OMIM:613563 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Hypoplastic toenai... |
ORPHA:544488 |
| Rothmund-Thomson Syndrome |
|
Telangiectasia of the skin, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Nasogastric tube ... |
ORPHA:2909 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:619487 |
| Omenn Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia, Edema |
ORPHA:39041 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Feeding difficul... |
OMIM:115150 |
| Diaphanospondylodysostosis |
|
Increased nuchal translucency, Oligohydramnios, Protuberant abdomen, Webbed neck, Hypoplastic fin... |
OMIM:608022 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Polyhydramnios, Jaundice, Fine hair, Sparse hair, Woolly hair, Hepatic ... |
OMIM:222470 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Oligohydramnios, Fine hair, Protuberant abdomen, Telangiectases of the chee... |
ORPHA:576 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Feeding difficulties, Tube feeding, Protuberant abdomen, Hypertrichosis |
OMIM:619479 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
| Vipoma |
|
Hepatomegaly, Malabsorption, Abnormal abdomen morphology, Dehydration, Hematochezia, Neoplasm of ... |
ORPHA:97282 |
| Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Jaundice, Anas... |
ORPHA:160 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
| Bresek Syndrome |
|
Neonatal death, Alopecia |
ORPHA:85284 |
| Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormal abdomen morphology, I... |
ORPHA:97278 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Intestinal perforation, Hematemesis, Hematochezia, ... |
ORPHA:464321 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... |
ORPHA:89938 |
| Hsd10 Disease, Infantile Type |
|
Gastrointestinal dysmotility, Cyanosis, Dysphagia |
ORPHA:391428 |
| Sclerosing Cholangitis, Neonatal |
|
Splenomegaly, Hepatomegaly, Acholic stools, Ascites |
OMIM:617394 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Nail dy... |
OMIM:127550 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Pseudobulbar paralysis, Depression |
ORPHA:79276 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema |
OMIM:261740 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Secretory diarrhea, Polyhydramnios |
OMIM:270420 |
| Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Constipation, Vomiting, Chronic hepatic... |
ORPHA:469 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
| Alg12-Cdg |
|
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:79324 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Dysphagia |
OMIM:150260 |
| Thyroid Hypoplasia |
|
Abdominal distention, Jaundice, Constipation |
ORPHA:95720 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Gastroesophageal reflux |
ORPHA:1949 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Death in infancy, Polyhydramnios, Abdominal distention, Jaundice, Ascites, Hepatic failure |
OMIM:617156 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Glass Syndrome |
|
Long eyelashes, Thin skin, Nail dysplasia, Sparse hair, Poor suck |
OMIM:612313 |
| Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Facial edema, Diarrhea, Functional abnormality of the gastrointestinal tract, F... |
ORPHA:221008 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Polyhydramnios, Nasal regurgitation, Feeding difficulties, Gastroesophageal reflux, Dys... |
ORPHA:590 |
| Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Fragile skin, Onycholysis, Nail dystrophy, ... |
OMIM:601214 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Polyhydramnios, Nasal regurgitation, Feeding difficulties, Gastroesophageal reflux, Dys... |
ORPHA:98914 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Stillbirth, Ascites |
OMIM:259720 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Polyhydramnios, Stillbirth, Protuberant abdomen |
OMIM:151210 |
| Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia |
ORPHA:95613 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Polyhydramnios, Feeding difficulties, Loose anagen hair, Long eyel... |
OMIM:607721 |
| Scarf Syndrome |
|
Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Webbed neck, Sparse hair |
OMIM:312830 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Polyhydramnios, Hypoperistalsis, Abdominal distention |
ORPHA:2241 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic hernia, Periorbital ... |
OMIM:613177 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e... |
ORPHA:1071 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormal abdomen morphology, S... |
ORPHA:97283 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Jaundice, Abdominal distention, Diarrhea, Asc... |
OMIM:256810 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... |
ORPHA:2309 |
| Dermatomyositis |
|
Abnormal hair quantity, Telangiectasia of the skin, Edema, Feeding difficulties in infancy, Perio... |
ORPHA:221 |
| Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Ascites, Absence of subcutaneous fat, Corneal scarring |
OMIM:610965 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Polyhydramnios, High palate, Ascites |
OMIM:606812 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia |
OMIM:602522 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Thin nail, Small nail |
OMIM:242100 |
| Farber Disease |
|
Joint swelling, Ascites, Hydrops fetalis, Hepatosplenomegaly |
ORPHA:333 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Fine hair, Ectodermal dysplasia, Sparse hair |
OMIM:614099 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph... |
ORPHA:293978 |
| Hurler Syndrome |
|
Protuberant abdomen, Hirsutism |
OMIM:607014 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Rectal abscess, Cellulitis, Pleural effusion, Ascites |
OMIM:306400 |
| Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormal abdomen morphology, Z... |
ORPHA:97261 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen |
OMIM:618272 |
| Immunodeficiency 22 |
|
Panniculitis, Ascites |
OMIM:615758 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Xerostomia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernail, Congenital ... |
ORPHA:158687 |
| Primary Biliary Cholangitis |
|
Abdominal distention, Jaundice, Gastrointestinal inflammation, Ascites, Dermatographic urticaria,... |
ORPHA:186 |
| Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Anorexia |
ORPHA:79139 |
| Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
| Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Nausea |
ORPHA:521219 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Pleural effusion |
OMIM:620233 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
| Wilson Disease |
|
Acute hepatic failure, Edema, Abdominal distention, Jaundice, Pedal edema, Ascites, Vomiting, Dys... |
OMIM:277900 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cutis marmorata, Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Angioedem... |
ORPHA:3260 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Constipation, Gastroesophageal reflux |
OMIM:616449 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Anorexia |
ORPHA:1302 |
| Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
| Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Facial edema, Diarrhea, Erythema, Functional abnormality of the gastrointestina... |
ORPHA:221016 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention |
ORPHA:1876 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Pedal edema, Hypoxemia, Pleural effusion, Pulmonary edema |
ORPHA:199241 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... |
ORPHA:50814 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injurious behav... |
ORPHA:293987 |
| Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Fine hair, Ectodermal dysplasia, Protuberant abdomen, S... |
OMIM:218330 |
| Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis |
OMIM:619762 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Esophageal stricture, Flexion contracture, Xerostomia, Pleural effusion, Abn... |
ORPHA:99921 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Protuberant abdomen |
OMIM:200600 |
| Chiari Malformation Type Ii |
|
Cyanosis, Feeding difficulties, Dysphagia |
OMIM:207950 |
| Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Palpebral edema, Sparse eyebrow, Protuberant abdomen, Death in childhood, Sparse hair |
OMIM:252500 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ungual fibroma, Ascites, ... |
ORPHA:538 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
| Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Depression, Hypophosphatemia, Self-injurious behavior, Hypokalemia, ... |
ORPHA:534 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormal abdomen morphology, A... |
ORPHA:97280 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
| Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis... |
OMIM:619573 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Polyhydramnios, Increased nuchal translucency, Cleft palate, Colon cancer, ... |
ORPHA:1052 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Urticari... |
ORPHA:343 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Oral-pharyngeal dysphagia, Hypomagnesemia, Splenomegaly, Reduced blood urea nitroge... |
OMIM:219800 |
| Leprechaunism |
|
Facial hypertrichosis, Abdominal distention, Reduced subcutaneous adipose tissue, Hypertrichosis |
ORPHA:508 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Hepatomegaly, Ascites |
OMIM:251880 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Cut... |
OMIM:606721 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Malabsorption, Splenomegaly, Pedal edema, Gastrointestinal infarctions, A... |
ORPHA:342 |
| Lethal Kniest-Like Dysplasia |
|
Polyhydramnios, Protuberant abdomen, Edema |
ORPHA:2347 |
| Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
| Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Coarse hair, Constipation, Protuberant abdomen, Dysphagia, Intermittent di... |
ORPHA:581 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis, Pedal edema |
ORPHA:439 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Feedi... |
OMIM:601358 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern, Edema |
ORPHA:2315 |
| Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Esophageal varix, Ascites |
ORPHA:53035 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Feeding difficulties in infancy, Cyanosis |
ORPHA:444013 |
| Tarp Syndrome |
|
Thick eyebrow, Cyanosis, Abnormal hair pattern |
ORPHA:2886 |
| Letterer-Siwe Disease |
|
Abdominal distention, Jaundice |
OMIM:246400 |
| Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Feeding difficulties, Thin skin, Dysphagia, Sparse hair, Premature skin wrinkli... |
OMIM:601559 |
| Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia |
ORPHA:91355 |
| Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention |
ORPHA:1830 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Ascites |
ORPHA:69665 |
| Down Syndrome |
|
Sparse hair, Prematurely aged appearance |
ORPHA:870 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Feeding difficulties in infancy, Brittle hair, Fine hair |
OMIM:618891 |
| Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Prematurely aged appearance, Corneal stromal edema, Thin skin, Spars... |
OMIM:601812 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernail morphology, Hypermelanot... |
ORPHA:1775 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wrinkled skin, Thin... |
ORPHA:920 |
| Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting |
ORPHA:71 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Ethylmalonic Encephalopathy |
|
Diarrhea, Acrocyanosis, Petechiae |
ORPHA:51188 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Abdominal pain, Abdominal distention, Diarrhea, Colitis |
ORPHA:309031 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Ascites, Recurrent gastroenteritis, Hepatosplenomegaly |
ORPHA:79124 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Diarrhea, Vomiting, Protuberant abdomen, Hepatic failure |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism |
OMIM:212066 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia |
ORPHA:544482 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... |
ORPHA:363618 |
| White-Sutton Syndrome |
|
Feeding difficulties, Gastroesophageal reflux, Constipation, Sparse hair, Poor suck |
OMIM:616364 |
| Gapo Syndrome |
|
Prominent scalp veins, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysp... |
OMIM:230740 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping |
OMIM:617101 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Protuberant abdomen |
OMIM:617102 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Thin nail, Poor appetite, Gastrointestinal dysmotility, Feeding difficulties, Chronic constipatio... |
OMIM:617799 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Liver Disease, Severe Congenital |
|
Dry hair, Abdominal distention, Jaundice, Malnutrition, Dependency on parenteral nutrition, Diarr... |
OMIM:619991 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Lysinuric Protein Intolerance |
|
Protein avoidance, Diarrhea, Malnutrition, Fine hair, Vomiting, Sparse hair, Nausea |
OMIM:222700 |
| Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting |
ORPHA:677 |
| Kid Syndrome |
|
Psoriasiform dermatitis, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Scarring ... |
ORPHA:477 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatomegaly, Hepatocellular carcinoma, Celiac disease, Splenomegaly, Ulcerat... |
ORPHA:171 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Fine hair |
ORPHA:251028 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:3453 |
| Kaufman Oculocerebrofacial Syndrome |
|
Feeding difficulties in infancy, Sparse eyebrow, Constipation, Thin skin, Sparse hair |
OMIM:244450 |
| Monosomy 22 |
|
Sparse hair, Joint swelling, Synophrys |
ORPHA:96123 |
| Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
| Bone Marrow Failure Syndrome 3 |
|
Feeding difficulties, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:617052 |
| Hereditary Spherocytosis |
|
Abdominal distention, Jaundice, Abdominal pain |
ORPHA:822 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, Melena, Hepatocellular ... |
OMIM:276700 |
| Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Protuberant abdomen, Edema |
OMIM:616038 |
| Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
| De Barsy Syndrome |
|
Progeroid facial appearance, Prominent veins on trunk, Excessive wrinkled skin, Thin skin, Sparse... |
ORPHA:2962 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Oral-pharyngeal dysphagia, Synophrys, Gastroesophageal reflux, Constipation, Sparse hair, Toenail... |
OMIM:300966 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis |
OMIM:265120 |
| Familial Visceral Myopathy |
|
Abdominal distention, Anonychia |
ORPHA:2604 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural empyema |
ORPHA:2038 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Webbed neck, Generalized edema |
OMIM:617478 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early balding |
ORPHA:2067 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Trichiasis, Oral-pharyngeal dysphagia, Anorexia, Abdominal distention, Diarrhea, Xerostomia, Gast... |
ORPHA:95455 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Menkes Disease |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hypopigmentation of hair, Feeding difficulties ... |
ORPHA:565 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
| Opsismodysplasia |
|
Polyhydramnios, Oligohydramnios, Protuberant abdomen, Edema |
OMIM:258480 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia, Small nail |
ORPHA:166035 |
| Carney Triad |
|
Gastrointestinal stroma tumor, Ascites, Gastrointestinal hemorrhage |
ORPHA:139411 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Progeroid facial appearance, Sparse axillary hair, Erythema, Death in adolescence, Premature gray... |
OMIM:256040 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema |
ORPHA:1054 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen |
OMIM:184250 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chronic diarrhea, Nail dystrophy, Sparse hair, Fragile skin, Alopecia universalis |
ORPHA:158668 |
| Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast apla... |
OMIM:181270 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer... |
OMIM:129900 |
| Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure |
ORPHA:2088 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Intestinal malrotation, Esophageal varix, Anasarca, Gastroesophageal reflux, Hig... |
OMIM:613658 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
| Opitz-Kaveggia Syndrome |
|
Facial wrinkling, Fine hair, Constipation, Frontal upsweep of hair, Sparse hair |
OMIM:305450 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Constipation, Gastroesophageal reflux, Feeding difficulties |
OMIM:619934 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha... |
ORPHA:2710 |
| Atresia Of Urethra |
|
Ascites, Oligohydramnios |
ORPHA:105 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Hepatic failure |
OMIM:261680 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... |
ORPHA:37 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia |
ORPHA:412057 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Vomiting, Nausea, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:2257 |
| Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair |
OMIM:615349 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Abdominal distention, Poor appetite |
OMIM:227810 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Gastroesophageal reflux |
OMIM:607812 |
| Atelosteogenesis, Type I |
|
Neonatal death, Polyhydramnios, Stillbirth, Protuberant abdomen |
OMIM:108720 |
| Aicardi-Goutieres Syndrome 1 |
|
Feeding difficulties in infancy, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, ... |
OMIM:225750 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Splenomegaly, Flexion contracture, Ascites |
OMIM:301072 |
| Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
| X-Linked Agammaglobulinemia |
|
Alopecia |
ORPHA:47 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Splenomegaly, Esophageal varix, Hepatosplenomega... |
ORPHA:731 |
| Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis |
ORPHA:2004 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair |
OMIM:613990 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail |
OMIM:614813 |
| Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillb... |
OMIM:215140 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Sparse eyelashes |
OMIM:610768 |
| Holoprosencephaly |
|
Hyponatremia, Abnormality of the spleen |
ORPHA:2162 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Telangiectasia, Sparse hair |
OMIM:234100 |
| Senior-Boichis Syndrome |
|
Ascites, Esophageal varix, Hepatosplenomegaly |
ORPHA:84081 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
OMIM:602557 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia, Palpebral edema |
ORPHA:2036 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
| Mixed Connective Tissue Disease |
|
Joint swelling, Alopecia, Xerostomia |
ORPHA:809 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis |
ORPHA:860 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Cutis marmorata, Abdominal pain, Urticaria, Gastroes... |
ORPHA:183 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
| Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
| Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Feeding difficulties in infancy, Vomiting, Hepatic failure, Cerebral ... |
OMIM:252010 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Nail dystrophy, Alopecia universalis |
OMIM:240300 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Cyanosis, Neonatal death |
OMIM:610921 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Death in childhood |
OMIM:300661 |
| Colonic Atresia |
|
Abdominal distention |
ORPHA:1198 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair |
OMIM:616541 |
| Double Outlet Right Ventricle |
|
Cyanosis, Feeding difficulties |
ORPHA:3426 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
ORPHA:93352 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair |
OMIM:614114 |
| Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Feeding difficulties, Constipation, Gastroesophageal reflux, Esophagitis, A... |
ORPHA:2896 |
| Viss Syndrome |
|
Sparse scalp hair, Alopecia, Prominent superficial blood vessels, Polyhydramnios, Abdominal diste... |
OMIM:619472 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Choanal Atresia |
|
Cyanosis, Feeding difficulties |
ORPHA:137914 |
| Tetrasomy 5P |
|
Cyanosis |
ORPHA:3309 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia |
ORPHA:488627 |
| Esophageal Atresia |
|
Cyanosis, Polyhydramnios, Feeding difficulties in infancy, Gastrointestinal dysmotility, Gastroes... |
ORPHA:1199 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe... |
OMIM:133540 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hepatic failure |
ORPHA:159 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Protuberant abdomen |
OMIM:264700 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Encopresis, Feeding difficulties, Gastroesophageal reflux, Constipation, Nail dysplasia, Sparse hair |
OMIM:616682 |
| Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... |
ORPHA:464 |
| Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Bowel incontinence |
ORPHA:309271 |
| Thyroid Ectopia |
|
Abdominal distention, Jaundice, Constipation |
ORPHA:95712 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Alopecia totalis |
OMIM:618775 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Fine hair, Death in childh... |
OMIM:210710 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
| Arboleda-Tham Syndrome |
|
Highly arched eyebrow, Feeding difficulties, Upper eyelid edema, Webbed neck, Gastroesophageal re... |
OMIM:616268 |
| Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Abdominal distention, Gastrointestinal dysmotility, Severe photosensitivity, Fe... |
OMIM:270400 |
| Eisenmenger Syndrome |
|
Cyanosis, Abdominal distention, Pedal edema, Hypoxemia, Peripheral edema, Ascites, Generalized edema |
ORPHA:97214 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Abnormality of the nail |
ORPHA:349 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy |
ORPHA:90154 |
| Gaucher Disease, Type Ii |
|
Death in infancy, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia |
OMIM:230900 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Polyhydramnios, Sparse eyebrow, Gastroesophageal reflux, Nail dystrophy, Hypoplast... |
OMIM:620186 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Anasarca, Ascites |
OMIM:203700 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Oligohydramnios |
OMIM:271520 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair, Prominent scalp veins, Cutis marmorata, Thin skin |
OMIM:151050 |
| Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Feeding difficulties, Death in childhood, Sparse ... |
OMIM:602535 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
| Pyknoachondrogenesis |
|
Abdominal distention, Muscular edema, Palpebral edema, Webbed neck |
ORPHA:3003 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Death in infancy, Fetal ascites, Polyhydramnios, Splenomegaly, Death in childhood |
OMIM:607625 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Low posterior hairline |
ORPHA:2959 |
| Ane Syndrome |
|
Alopecia |
ORPHA:157954 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Loss of eyelashe... |
ORPHA:740 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Breast hypoplasia |
ORPHA:432 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertrichosis, Upper eyelid edema |
ORPHA:168569 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Thin skin, Sparse hair, Premature skin wri... |
OMIM:200110 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia |
ORPHA:90153 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hepatomegaly, Sparse scalp hair, Fair hair, Malabsorption, Splenomegaly, Ant... |
OMIM:243800 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Pericardial effusion, Cyanosis |
ORPHA:555874 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Oligohydramnios |
OMIM:619351 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Polyhydramnios, Concave nail, Webbed neck, Sparse hair, Po... |
OMIM:218040 |
| Criss-Cross Heart |
|
Cyanosis, Feeding difficulties |
ORPHA:1461 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation, Vomiting, Acroc... |
OMIM:223900 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Polyhydramnios, Sparse eyebrow, Synophrys, Low anterior... |
OMIM:619841 |
| Congenital Tracheal Stenosis |
|
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... |
ORPHA:141127 |
| Cranioectodermal Dysplasia 2 |
|
Sparse eyelashes, Polyhydramnios, Sparse eyebrow, Hydrops fetalis, Ectodermal dysplasia, Sparse hair |
OMIM:613610 |
| Atelosteogenesis Type Ii |
|
Polyhydramnios, Protuberant abdomen |
ORPHA:56304 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Polyhydramnios, Feeding difficulties, Hypoplastic nipples, Protuberant abdomen, Smal... |
ORPHA:96334 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Chime Syndrome |
|
Sparse hair, Erythema, Fine hair |
ORPHA:3474 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia |
OMIM:163200 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Leigh Syndrome |
|
Alopecia, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy |
OMIM:614008 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan... |
ORPHA:79474 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites |
ORPHA:646 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Progeroid facial appearance, Sparse eyebrow, Nail dystrophy, Death in childhood, Sparse hair |
OMIM:619127 |
| Cutis Marmorata Telangiectatica Congenita |
|
Ascites |
ORPHA:1556 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Polyhydramnios, Feeding difficulties, Gastroesophageal reflux, Sparse hair, Frontal hirsutism |
OMIM:617157 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Vomiting, Pulmonary edema |
ORPHA:137675 |
| Alstrom Syndrome |
|
Alopecia |
OMIM:203800 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe... |
OMIM:216400 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Fine hair, Hypoplastic nipples, Webbed neck, Sparse hair, Sparse lateral e... |
OMIM:280000 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Abdominal distention, Diarrhea, Constipation |
ORPHA:653 |
| Atrial Septal Defect, Ostium Primum Type |
|
Peripheral edema, Cyanosis |
ORPHA:99106 |
| X-Linked Acrogigantism |
|
Abdominal distention |
ORPHA:300373 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Alopecia universalis |
OMIM:606367 |
| Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Protuberant abdomen |
ORPHA:50945 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Roberts Syndrome |
|
Sparse hair, Polyhydramnios |
ORPHA:3103 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Abdominal distention, Jaundice, Gastroesophageal reflux, Prolonged neonata... |
OMIM:619534 |
| Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Protuberant abdomen |
ORPHA:289157 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
| Pulmonary Alveolar Microlithiasis |
|
Hypoxemia, Peripheral edema, Cyanosis, Oxygen desaturation on exertion |
ORPHA:60025 |
| Mowat-Wilson Syndrome |
|
Supernumerary nipple, Abdominal distention, Constipation, Vomiting, Broad eyebrow |
OMIM:235730 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Renpenning Syndrome 1 |
|
Brittle hair, Death in childhood, Sparse hair, Poor suck, Sparse lateral eyebrow |
OMIM:309500 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Hirsutism |
ORPHA:189427 |
| Giant Cell Arteritis |
|
Alopecia |
ORPHA:397 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Feeding difficulties |
ORPHA:1329 |
| Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair, Feeding difficulties |
OMIM:620005 |
| Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
| Myhre Syndrome |
|
Sparse hair, Pericardial effusion, Thick eyebrow, Fine hair |
OMIM:139210 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hirsutism |
ORPHA:90795 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... |
OMIM:263650 |
| Systemic Sclerosis |
|
Joint swelling, Alopecia, Nail bed telangiectasia |
ORPHA:90291 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Cartilage-Hair Hypoplasia |
|
Sparse hair, Sparse eyebrow |
ORPHA:175 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypertrichosis |
OMIM:263700 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia |
OMIM:613001 |
| Immunodeficiency 7 |
|
Patchy alopecia |
OMIM:615387 |
| Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Acrocyanosis, Thick... |
OMIM:303600 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Hydromye... |
OMIM:308205 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Meconium ileus, Feeding difficulties |
OMIM:617239 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Restrictive Dermopathy |
|
Short nail, Polyhydramnios, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Spar... |
ORPHA:1662 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Alopecia |
ORPHA:536532 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Cyanosis, Telangiectasia of the skin, N... |
OMIM:187300 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Melena, Ascites, Parotitis |
ORPHA:99827 |
| Currarino Syndrome |
|
Gastrointestinal obstruction, Chronic constipation, Abdominal distention |
OMIM:176450 |
| Sympathetic Ophthalmia |
|
Alopecia, Poliosis, Macular edema |
ORPHA:79098 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
| Absence Of The Pulmonary Artery |
|
Pulmonary edema, Cyanosis, Pedal edema, Hypocapnia |
ORPHA:980 |
| Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
| Dyggve-Melchior-Clausen Disease |
|
Protuberant abdomen |
ORPHA:239 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... |
OMIM:301040 |
| Juvenile Dermatomyositis |
|
Alopecia, Palpebral edema |
ORPHA:93672 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Edema, Paronychia, Dehydration, Nail dystrophy, Anonychia, Abnormality of the nail |
ORPHA:79404 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Stillbirth, Small nail |
OMIM:308050 |
| Neurocardiofaciodigital Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:619869 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Constipation |
OMIM:218700 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic toenails, Cyanosis, Polyhydramnios |
OMIM:306955 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Hematemesis, Fingerpad telangiect... |
OMIM:600376 |
| Focal Dermal Hypoplasia |
|
Alopecia, Abnormality of the nail |
ORPHA:2092 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pedal edema |
ORPHA:99103 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Splenomegaly, Pedal edema, Peripheral edema, Ascites |
ORPHA:75565 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Enterocolitis, Ulcerative colitis, Inflammation of the large intestine, Protuberant abd... |
ORPHA:79259 |
| Myasthenia Gravis |
|
Acrocyanosis, Dysphagia |
ORPHA:589 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:37042 |
| Aortic Arch Interruption |
|
Feeding difficulties in infancy, Cyanosis, Pedal edema |
ORPHA:2299 |
| Wrinkly Skin Syndrome |
|
Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Palmoplantar c... |
OMIM:278250 |
| Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
| Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Telangiectasia, Patchy alopecia, Nail dystrophy,... |
OMIM:305600 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Nausea, Chronic constipation, Blepharochalasis, ... |
ORPHA:287 |
| Congenital Tracheomalacia |
|
Cyanosis, Gastroesophageal reflux, Feeding difficulties |
ORPHA:95430 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Menke-Hennekam Syndrome 1 |
|
Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Long eyelashes, Sparse hair,... |
OMIM:618332 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Dehydration |
OMIM:259900 |
| Phakomatosis Pigmentokeratotica |
|
Patchy alopecia, Lymphedema |
ORPHA:2874 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Increased subcutan... |
ORPHA:3455 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hydrops fetalis, Edema |
OMIM:212093 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Feeding difficulties, Vom... |
ORPHA:51608 |
| Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair |
ORPHA:548 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Xerostomia |
ORPHA:227990 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Protuberant abdomen |
OMIM:232220 |
| Autosomal Recessive Robinow Syndrome |
|
Alopecia, Long eyelashes, Fingernail dysplasia |
ORPHA:1507 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
| Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Cyanosis, Nasogastric tube feeding |
ORPHA:268943 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Hirsutism |
ORPHA:2298 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Xerostomia |
ORPHA:227982 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia |
ORPHA:2612 |
| Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... |
ORPHA:3107 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Wrinkly Skin Syndrome |
|
Sparse hair, Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Pr... |
ORPHA:2834 |
| Weill-Marchesani Syndrome 2 |
|
Protuberant abdomen |
OMIM:608328 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Anorexia, Abdominal pain, Gastrointestinal inflammation, Unusu... |
ORPHA:48435 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Fragile nails, Vomiting, Gastroesophageal reflux, Sparse hair, Alopecia of sca... |
OMIM:150230 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Fair hair |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Alopecia, Fair hair |
ORPHA:363958 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Protuberant abdomen |
OMIM:618019 |
| Xeroderma Pigmentosum |
|
Alopecia |
ORPHA:910 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Gastroes... |
OMIM:113620 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Edema of the dorsum of feet, Sparse eyelashes, Supernumerary nipple,... |
OMIM:601803 |
| Steinert Myotonic Dystrophy |
|
Early balding, Alopecia, Polyhydramnios |
ORPHA:273 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Pleural effusion, Palpebral edema |
ORPHA:50918 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abdominal distention, Hydrops fetalis |
ORPHA:93271 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Low posterior hairlin... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Low posterior hairlin... |
ORPHA:99228 |
| Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Low posterior hairlin... |
ORPHA:99226 |
| Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Low posterior hairlin... |
ORPHA:881 |
| Roberts-Sc Phocomelia Syndrome |
|
Sparse hair, Stillbirth, Polyhydramnios |
OMIM:268300 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
| Truncus Arteriosus |
|
Cyanosis, Pulmonary edema |
ORPHA:3384 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
| Double Outlet Left Ventricle |
|
Cyanosis |
ORPHA:3427 |
| Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
| Sarcoidosis |
|
Alopecia, Joint swelling, Pleural effusion, Chylothorax |
ORPHA:797 |
| Relapsing Polychondritis |
|
Alopecia |
ORPHA:728 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Nausea and vomiting, Gastrointestinal dysmotility, Gastroesophageal reflux, Constipation, Thin sk... |
ORPHA:285 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia |
OMIM:619321 |
| Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
| Primrose Syndrome |
|
Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S... |
OMIM:259050 |
| Ring Chromosome 13 Syndrome |
|
Alopecia |
ORPHA:96176 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| African Trypanosomiasis |
|
Alopecia |
ORPHA:3385 |
| Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... |
ORPHA:286 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Poor suck |
ORPHA:99125 |
