Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes |
OMIM:300946 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,... |
OMIM:127550 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Anemia |
OMIM:121270 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... |
OMIM:258360 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o... |
ORPHA:75564 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Peeling Skin Syndrome 1 |
|
Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia |
OMIM:270300 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic... |
ORPHA:124 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Increased mean corpuscular volume, Abnormal hair pattern, Thrombocytopenia |
ORPHA:261250 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair |
ORPHA:3447 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d... |
OMIM:613990 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, White hair, Anemia, Fine hair |
ORPHA:935 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail |
ORPHA:621 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Low posterior hairline, Sparse hair |
OMIM:613224 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia |
OMIM:256500 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... |
OMIM:308300 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair |
OMIM:620075 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Neutropenia, Tiger tail banding, Lymphopenia, Trichorrhexis nodosa |
OMIM:616395 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Thrombocytopenia |
OMIM:619980 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posterior hairline, Anemia, Leukop... |
OMIM:617303 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal T cell morphology, Anemia, Fine hair, Coarse hair, Neutropenia, Lymphopeni... |
OMIM:242900 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Omenn Syndrome |
|
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l... |
ORPHA:39041 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Revesz Syndrome |
|
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy... |
OMIM:620072 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair |
ORPHA:1028 |
Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology |
ORPHA:3082 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia |
ORPHA:98791 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T... |
OMIM:601675 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... |
ORPHA:634 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp |
OMIM:615280 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... |
OMIM:158310 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Tonne-Kalscheuer Syndrome |
|
Fine hair, Small nail, Concave nail |
OMIM:300978 |
Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
Noonan Syndrome 5 |
|
Sparse eyebrow, Curly hair, Small nail, Fine hair |
OMIM:611553 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Smith-Kingsmore Syndrome |
|
Curly hair, Thrombocytopenia |
OMIM:616638 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Coarse hair, Lymphopenia |
OMIM:605309 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Anemia, Nail dystrophy, Nail dysplasia, Sparse hair, Thromb... |
OMIM:612199 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Thick eyebrow, Fine hair |
OMIM:614800 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline, Thrombocytopenia |
OMIM:610733 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Lymphopenia |
OMIM:619745 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... |
ORPHA:217346 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... |
ORPHA:84064 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair, Fine hair, S... |
OMIM:222470 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... |
ORPHA:97214 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Sparse hair, Thrombocytopenia |
OMIM:222700 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture, Megaloblastic anemia |
ORPHA:79351 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Increased mean corpuscula... |
ORPHA:33364 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Chops Syndrome |
|
Curly hair, Thick hair, Splenomegaly, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow |
OMIM:616368 |
Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Concave nail, Hypoplastic toenails, Abnormal hair... |
ORPHA:3071 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten... |
OMIM:603903 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Coarse hair, Thick eyebrow |
ORPHA:585 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Coarse hair, Thrombocytopenia |
OMIM:612394 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Noonan Syndrome 8 |
|
Curly hair |
OMIM:615355 |
Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline |
OMIM:613706 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Anemia, Fine hair |
ORPHA:2637 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Abnormality of neutrophils, Hypoplastic toenai... |
ORPHA:235 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline |
OMIM:617360 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ... |
ORPHA:1340 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair |
OMIM:618810 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Splenomegaly, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hai... |
OMIM:618268 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Splenomegaly, Synophrys, Coarse hair, Facial hirsutism, Hirsutism |
OMIM:252940 |
Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... |
ORPHA:261318 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... |
OMIM:115150 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... |
ORPHA:2710 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair |
ORPHA:1812 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
Koolen-De Vries Syndrome |
|
Fair hair, Abnormality of hair texture |
OMIM:610443 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... |
OMIM:617506 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Hepatosplenomegaly, Low po... |
OMIM:613563 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Hypoplasia of the thymus, N... |
ORPHA:1896 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... |
OMIM:304110 |
2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair |
ORPHA:261349 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Noonan Syndrome 2 |
|
Sparse eyebrow, Curly hair, Leukemia, Low posterior hairline |
OMIM:605275 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Thick hair |
ORPHA:357074 |
Cranioectodermal Dysplasia 3 |
|
Sparse hair, Short nail, Broad nail, Fine hair |
OMIM:614099 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Anemia, Abnormality of hair texture |
ORPHA:667 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:234100 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ... |
OMIM:601358 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Mucolipidosis Type Ii |
|
Dry hair, Splenomegaly, White hair, Fine hair, Hepatosplenomegaly |
ORPHA:576 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
Mucopolysaccharidosis Type 3 |
|
Thick hair, Splenomegaly, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair |
OMIM:607721 |
Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior hairline, Coarse hair, Gene... |
ORPHA:955 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Fine hair, Acute lymphoblastic leukemia, Hypoplastic nipples, Sparse hair,... |
OMIM:280000 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
Noonan Syndrome |
|
Abnormal hair quantity, Abnormality of the spleen, Coarse hair, Low posterior hairline |
ORPHA:648 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis |
OMIM:602535 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Chime Syndrome |
|
Sparse hair, Fine hair, Acute leukemia |
ORPHA:3474 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
Mucolipidosis Ii Alpha/Beta |
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Sparse eyebrow, Splenomegaly, Brittle hair, Sparse hair |
OMIM:252500 |
Cerebellar-Facial-Dental Syndrome |
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Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
Adrenomyeloneuropathy |
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Frontal balding, Fine hair |
ORPHA:139399 |
Noonan Syndrome 10 |
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Sparse eyebrow, Curly hair |
OMIM:616564 |
Ogden Syndrome |
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Sparse eyebrow, Fine hair, Iron deficiency anemia, Long eyelashes, Polycythemia, Thrombocytopenia |
OMIM:300855 |
Orofaciodigital Syndrome Type 1 |
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Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th... |
OMIM:619950 |
Cockayne Syndrome B |
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Sparse hair, Splenomegaly, Dry hair, Abnormal hair morphology |
OMIM:133540 |
Cranioectodermal Dysplasia 1 |
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Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair |
OMIM:218330 |
Oculocerebrorenal Syndrome Of Lowe |
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Anemia, Sparse scalp hair, Thrombocytopenia, Fine hair |
ORPHA:534 |
Orofaciodigital Syndrome I |
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Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
Fontaine Progeroid Syndrome |
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Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars... |
OMIM:612289 |
Menkes Disease |
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Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Cockayne Syndrome Type 3 |
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Premature graying of hair, Splenomegaly, Dry hair |
ORPHA:90324 |
Cockayne Syndrome A |
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Sparse hair, Splenomegaly, Dry hair |
OMIM:216400 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
Woodhouse-Sakati Syndrome |
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Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Medial flaring of the eyebrow, Hemolytic anemia, Sparse scalp hair, Thick eyebrow, Curly hair, Sy... |
OMIM:619503 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture |
ORPHA:73223 |
Liver Disease, Severe Congenital |
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Dry hair, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Nail dystrophy, Anemia |
OMIM:619991 |
Chand Syndrome |
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Curly hair, Nail dysplasia |
ORPHA:1401 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Coarse hair, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Cockayne Syndrome |
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Splenomegaly, Dry hair, Fine hair |
ORPHA:191 |
Distal Deletion 12Q |
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Small nail, Fine hair |
ORPHA:96149 |
Myhre Syndrome |
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Sparse hair, Thick eyebrow, Fine hair |
OMIM:139210 |
Noonan Syndrome 1 |
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Woolly hair, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Low posterior ha... |
OMIM:163950 |
Coffin-Siris Syndrome 1 |
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Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,... |
OMIM:135900 |
Focal Dermal Hypoplasia |
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Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... |
OMIM:305600 |
Costello Syndrome |
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Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails |
OMIM:218040 |
Occipital Horn Syndrome |
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Coarse hair, Pili torti |
OMIM:304150 |
Melnick-Needles Syndrome |
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Coarse hair, Frontal hirsutism |
OMIM:309350 |
Zttk Syndrome |
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Sparse eyebrow, Curly hair, Broad eyebrow |
OMIM:617140 |
Occipital Horn Syndrome |
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Coarse hair, Thick hair |
ORPHA:198 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:210710 |
Renpenning Syndrome 1 |
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Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
Neuroocular Syndrome |
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Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
Coffin-Lowry Syndrome |
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Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Brittle hair |
OMIM:124000 |
Witteveen-Kolk Syndrome |
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Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails |
OMIM:613406 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Sparse eyebrow, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Curly hair, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... |
ORPHA:286 |
Alström Syndrome |
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Frontal balding, Splenomegaly, Fine hair, Hepatosplenomegaly, Hirsutism |
ORPHA:64 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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OMIM:620141 |