Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
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 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... |
ORPHA:2891 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
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 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:261900 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Neutropenia, Curly eyelashes, Sparse pubic hair, Trichorrhexis nodosa, Curly... |
OMIM:258360 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Trichodental Dysplasia |
|
Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:607903 |
Copper Deficiency, Familial Benign |
|
Early balding, Curly hair, Anemia |
OMIM:121270 |
Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... |
ORPHA:248 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas... |
ORPHA:2228 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... |
ORPHA:1433 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Dwarfism, Familial, With Muscle Spasms |
|
Fine hair, Sparse scalp hair, Brittle scalp hair |
OMIM:600771 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Bazex-Dupré-Christol Syndrome |
|
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... |
ORPHA:113 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair |
OMIM:129490 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume |
OMIM:611590 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nail dystrophy |
OMIM:609057 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Abnormality of hair texture |
OMIM:270300 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... |
ORPHA:1882 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair |
OMIM:104100 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
16Q24.3 Microdeletion Syndrome |
|
Thrombocytopenia, Increased mean corpuscular volume, Abnormal hair pattern, Highly arched eyebrow |
ORPHA:261250 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612562 |
Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Brittle hair, Coarse hair |
OMIM:616390 |
Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... |
ORPHA:2890 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:602400 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... |
OMIM:225060 |
Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail |
OMIM:262020 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi |
OMIM:614602 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Sparse scalp hair, Brittle hair, Pili torti |
ORPHA:1573 |
Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Curly hair, Sparse hair, Absent eyebrow |
OMIM:615278 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... |
ORPHA:300298 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow |
OMIM:607655 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... |
ORPHA:231222 |
Hawkinsinuria |
|
Fine hair, Sparse hair |
ORPHA:2118 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Cartilage-Hair Hypoplasia |
|
Fine hair, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Sparse ... |
OMIM:250250 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na... |
OMIM:234050 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Amaurosis-Hypertrichosis Syndrome |
|
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys |
ORPHA:1021 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... |
OMIM:618278 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Bazex Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma |
OMIM:301845 |
Pachyonychia Congenita 2 |
|
Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar... |
OMIM:167210 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Hypotrichosis Simplex Of The Scalp |
|
Fine hair, Sparse scalp hair, Alopecia of scalp, Slow-growing scalp hair |
ORPHA:90368 |
Netherton Syndrome |
|
Brittle hair, Sparse scalp hair, Hypereosinophilia, Brittle scalp hair, Sparse and thin eyebrow |
OMIM:256500 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Coarse hair, Sparse hair |
ORPHA:1883 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Fine hair, Neutropenia, Coarse hair, Anemia, Lymphopenia, Thrombocyto... |
OMIM:242900 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Leukopenia, Alopecia, Nail dysplasia, Pancytopenia, Thrombocytopenia, Aplastic anemia,... |
OMIM:613990 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Woolly hair, Ridged fingernail, Low posterior hairline, Widow's peak |
ORPHA:1520 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Weaver Syndrome |
|
Fine hair, Thin nail, Deep-set nails, Hypoplastic toenails, Abnormal fingernail morphology |
ORPHA:3447 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism, Splenomegaly |
OMIM:252900 |
Growth Hormone Insensitivity Syndrome |
|
Fine hair, Abnormality of the nail |
ORPHA:181393 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:616395 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Odontoonychodermal Dysplasia |
|
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Sparse scalp h... |
OMIM:257980 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, White hair, Anemia, Lymphopenia |
ORPHA:935 |
Progeroid Syndrome, Petty Type |
|
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali... |
ORPHA:2963 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Low posterior hairline, Sparse hair, Long eyebrows |
OMIM:613224 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Leukocytosis, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail... |
OMIM:308300 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Acute myeloid leukemia |
ORPHA:98827 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Brittle hair, Sideroblastic ane... |
OMIM:616084 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Fine hair, Sparse scalp hair |
ORPHA:2324 |
Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Tiger tail banding, Small nail, Brittle hair, Nail dystrophy, Trichorrhexis nodosa, Ab... |
OMIM:601675 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... |
OMIM:211370 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Tiger tail banding |
OMIM:616943 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Hirsutism, Leukopenia, Low anterior hairline, Low posterior hairline, Coarse hair, A... |
OMIM:617303 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism, Splenomegaly |
OMIM:252920 |
Cerebellofaciodental Syndrome |
|
Fine hair, Sparse and thin eyebrow, Sparse hair |
OMIM:616202 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Pili canaliculi, Uncombable hair |
OMIM:191482 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Fine hair, Long eyelashes, High anterior hairline |
ORPHA:231137 |
Revesz Syndrome |
|
Fine hair, Sparse hair, Nail dystrophy, Ridged fingernail, Aplastic anemia, Nail pits |
OMIM:268130 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair |
OMIM:615821 |
Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Sparse hair |
ORPHA:1839 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding |
OMIM:300953 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Coarse hair |
OMIM:248010 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Coarse hair |
ORPHA:75389 |
Omenn Syndrome |
|
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Alopecia, Splenomegaly, Aplasia/Hypoplasia ... |
ORPHA:39041 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia |
ORPHA:50812 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Coarse hair, Synophrys |
OMIM:616351 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Curly eyelashes, Curly hair, Nail dysplasia, Thick eyebrow, Low poste... |
ORPHA:163654 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology, Uncombable hair |
ORPHA:3082 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
Mucopolysaccharidosis, Type Iiid |
|
Hirsutism, Coarse hair, Splenomegaly, Thick eyebrow, Synophrys |
OMIM:252940 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... |
ORPHA:824 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Abnormal fingernail morphology, Onycholysis, Hypoplastic toenails |
ORPHA:1028 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia, Eosinophilia |
OMIM:158310 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Splenomegaly |
OMIM:252930 |
Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... |
ORPHA:978 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair |
OMIM:605676 |
2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Sparse hair |
ORPHA:251019 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Coarse hair, Abnormality of hair texture |
OMIM:219200 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Fine hair, Thick eyebrow |
OMIM:614800 |
Giant Axonal Neuropathy |
|
Pili canaliculi, Woolly hair |
ORPHA:643 |
Netherton Syndrome |
|
Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, S... |
ORPHA:634 |
Distal Trisomy 6P |
|
Fine hair, Abnormal eyelash morphology, Abnormal hair quantity |
ORPHA:1745 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Curly hair |
OMIM:616638 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture |
OMIM:608612 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail |
ORPHA:621 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Highly arched eyebrow, Brittle hair, Long eyelashes, Thick eyebrow, Synophrys |
OMIM:617412 |
Noonan Syndrome 5 |
|
Fine hair, Curly hair, Small nail, Sparse eyebrow |
OMIM:611553 |
Spinocerebellar Ataxia With Dysmorphism |
|
Coarse hair |
OMIM:271270 |
Tonne-Kalscheuer Syndrome |
|
Fine hair, Small nail |
OMIM:300978 |
Rodrigues Blindness |
|
Fine hair, Sparse hair |
OMIM:268320 |
Hall-Riggs Syndrome |
|
Slow-growing hair, Coarse hair, Thick hair |
ORPHA:2107 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Sparse or absent eyelashes, Sparse scalp hair, A... |
ORPHA:3353 |
Rapp-Hodgkin Syndrome |
|
Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Onychogryposis, Sp... |
OMIM:129400 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Sparse hair |
OMIM:616817 |
Castleman Disease |
|
Thrombocytopenia, Decreased mean corpuscular volume, Anemia |
ORPHA:160 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Sparse hair, Low anterior hairline, Synophrys |
ORPHA:391408 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Trichorhinophalangeal Syndrome, Type I |
|
Fine hair, Thin eyebrow, Sparse lateral eyebrow, Thin nail, Slow-growing hair, Leukonychia, Conca... |
OMIM:190350 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Brittle hair, Trichorrh... |
ORPHA:84064 |
Trichohepatoenteric Syndrome 1 |
|
Fine hair, Thrombocytosis, Increased mean platelet volume, Brittle hair, Trichorrhexis nodosa, Cu... |
OMIM:222470 |
19Q13.11 Microdeletion Syndrome |
|
Fine hair, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Super... |
ORPHA:217346 |
Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
Noonan Syndrome 4 |
|
High anterior hairline, Thrombocytopenia, Curly hair, Sparse eyebrow |
OMIM:610733 |
Psoriasis 14, Pustular |
|
Leukocytosis, Nail dystrophy, Neutrophilia |
OMIM:614204 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
Popov-Chang syndrome |
|
Coarse hair, Lymphopenia |
OMIM:618428 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alopecia of scalp,... |
ORPHA:35173 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Brain abscess, Hypochromic microcytic ... |
ORPHA:97214 |
Leopard Syndrome 3 |
|
Low posterior hairline, Curly hair |
OMIM:613707 |
Fetal Hydantoin Syndrome |
|
Low posterior hairline, Coarse hair, Hypoplastic fingernail |
ORPHA:1912 |
Trichothiodystrophy |
|
Tiger tail banding, Neutropenia, Dystrophic fingernails, Split nail, Alopecia of scalp, Ridged na... |
ORPHA:33364 |
Lysinuric Protein Intolerance |
|
Fine hair, Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Sparse hair, Hemophagocytosis |
OMIM:222700 |
Noonan Syndrome 9 |
|
Curly hair, Sparse eyebrow |
OMIM:616559 |
Trichohepatoneurodevelopmental Syndrome |
|
Hypoplastic nipples, Hypertrichosis, Coarse hair, Splenomegaly, Curly hair, Woolly hair, Synophrys |
OMIM:618268 |
Naxos Disease |
|
Onycholysis, Nail dystrophy, Curly hair, Woolly hair, Sparse and thin eyebrow, Sparse body hair |
OMIM:601214 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Nail dystrophy, Brittle hair, Dry hair |
ORPHA:93947 |
Costello Syndrome |
|
Hypoplastic toenails, Abnormal hair morphology, Deep-set nails, Woolly hair, Concave nail, Abnorm... |
ORPHA:3071 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Abnormality of hair texture |
ORPHA:79351 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Supernumerary ... |
OMIM:141750 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair |
OMIM:617360 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow, Splenomegaly |
ORPHA:585 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Anemia |
ORPHA:2637 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Fine hair, Sparse hair |
OMIM:614438 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Fine hair, Abnormal fingernail morphology, Sparse hair |
ORPHA:1806 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Fine hair, Synophrys |
OMIM:619428 |
Thymoma |
|
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Noonan Syndrome 8 |
|
Curly hair |
OMIM:615355 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Noonan Syndrome 7 |
|
Low posterior hairline, Curly hair |
OMIM:613706 |
Intellectual Disability, Buenos-Aires Type |
|
Fine hair, Abnormal fingernail morphology, Hyperconvex thumb nails |
ORPHA:3079 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Nail dysplasia |
OMIM:614091 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Cerebrofaciothoracic Dysplasia |
|
Coarse hair, Abnormal hair pattern, Thick eyebrow, Low posterior hairline, Synophrys |
ORPHA:1394 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Generalized hirsutism, Low anterior hairline |
ORPHA:2095 |
Dubowitz Syndrome |
|
Fine hair, Acute lymphoblastic leukemia, Low anterior hairline, Sparse lateral eyebrow, Abnormal ... |
ORPHA:235 |
Sickle Cell Anemia |
|
Leukocytosis, Hemolytic anemia, Increased red cell sickling tendency, Splenomegaly |
OMIM:603903 |
Trisomy 20P |
|
Highly arched eyebrow, Low anterior hairline, Coarse hair, Thick hair, Thick eyebrow, Low posteri... |
ORPHA:261318 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Dystrophic fingernails, Dystrophic toenail, Coarse hair, Hyperconvex fingernail... |
ORPHA:1071 |
Cardiofaciocutaneous Syndrome |
|
Fine hair, Dystrophic fingernails, Brittle hair, Sparse or absent eyelashes, Slow-growing hair, L... |
ORPHA:1340 |
Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Coarse hair, Hirsutism, Splenomegaly |
OMIM:253220 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Fine hair, Alopecia |
ORPHA:228390 |
Ogden Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:276432 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Absent eyelashes, Splenomegaly, Curly hair, Slow-growing hair, Low posterior hair... |
OMIM:115150 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Sparse hair, Sp... |
ORPHA:2108 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow |
OMIM:618810 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyelashes, Hypoplastic nipples, Brittle h... |
OMIM:305100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Coarse hair, Sparse hair |
OMIM:118650 |
Oculodentodigital Dysplasia |
|
Fine hair, Brittle hair, Curly hair, Abnormality of the nail, Slow-growing hair, Abnormal fingern... |
ORPHA:2710 |
Eec Syndrome |
|
Fine hair, Hypoplasia of the thymus, Coarse hair, Nail dystrophy, Thick eyebrow, Slow-growing hai... |
ORPHA:1896 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple |
ORPHA:1812 |
Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
Noonan Syndrome 2 |
|
Leukemia, Low posterior hairline, Curly hair, Sparse eyebrow |
OMIM:605275 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
Scalp-Ear-Nipple Syndrome |
|
Fine hair, Abnormal hair morphology, Nail dysplasia, Abnormality of the nail, Breast aplasia, Spa... |
OMIM:181270 |
Cranioectodermal Dysplasia 3 |
|
Fine hair, Broad nail, Short nail, Sparse hair |
OMIM:614099 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Fine hair, Acute lymphoblastic leukemia, Sparse hair, Hypoplastic nipples |
OMIM:280000 |
Koolen-De Vries Syndrome |
|
Fair hair, Abnormality of hair texture |
OMIM:610443 |
2P15P16.1 Microdeletion Syndrome |
|
Fine hair, Sparse and thin eyebrow, Long eyelashes, Supernumerary nipple |
ORPHA:261349 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Coarse hair |
OMIM:612394 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Highly arched eyebrow, Sparse lateral eyebrow, Coarse hair, Curly hair, Slow-growing hair, High a... |
OMIM:617506 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Oculodentodigital Dysplasia |
|
Fine hair, Dry hair, Fragile nails, Slow-growing hair, Sparse hair |
OMIM:164200 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Sparse hair, Coarse hair |
ORPHA:50814 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Thick hair, Coarse hair |
ORPHA:357074 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fine hair, Sparse eyelashes |
OMIM:257850 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Fine hair, Sparse hair |
ORPHA:251028 |
Argininosuccinic Aciduria |
|
Brittle hair, Dry hair, Trichorrhexis nodosa |
OMIM:207900 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Sparse hair, Fine hair |
OMIM:277590 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Fine hair, Sparse hair, Juvenile myelomonocytic leukemia |
OMIM:613563 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture, Anemia, Splenomegaly |
ORPHA:667 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Fine hair, Brittle hair, Sparse hair |
OMIM:618891 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Genitopatellar Syndrome |
|
Fine hair, Sparse scalp hair |
ORPHA:85201 |
Mucolipidosis Type Ii |
|
Fine hair, Dry hair, White hair, Splenomegaly, Hepatosplenomegaly |
ORPHA:576 |
Ogden Syndrome |
|
Fine hair, Sparse and thin eyebrow, Long eyelashes |
OMIM:300855 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
Hallermann-Streiff Syndrome |
|
Fine hair, Sparse eyelashes, Sparse scalp hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234100 |
Mucopolysaccharidosis Type 3 |
|
Hirsutism, Coarse hair, Splenomegaly, Thick hair, Generalized hirsutism, Synophrys |
ORPHA:581 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Long eyelashes, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:607721 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
Hajdu-Cheney Syndrome |
|
Low anterior hairline, Coarse hair, Splenomegaly, Thick eyebrow, Generalized hirsutism, Abnormal ... |
ORPHA:955 |
Noonan Syndrome |
|
Abnormality of the spleen, Low posterior hairline, Coarse hair, Abnormal hair quantity |
ORPHA:648 |
Cataract, Aberrant Oral Frenula, And Growth Retardation |
|
Curly hair |
OMIM:115645 |
Opitz-Kaveggia Syndrome |
|
Fine hair, Sparse hair, Frontal upsweep of hair |
OMIM:305450 |
Chime Syndrome |
|
Fine hair, Sparse hair, Acute leukemia |
ORPHA:3474 |
Adrenomyeloneuropathy |
|
Fine hair, Frontal balding |
ORPHA:139399 |
Focal Dermal Hypoplasia |
|
Hypoplastic nipples, Absent toenail, Brittle hair, Nail dystrophy, Abnormality of hair texture, N... |
OMIM:305600 |
Cerebellar-Facial-Dental Syndrome |
|
Fine hair, Sparse hair, Sparse eyebrow |
ORPHA:444072 |
Ablepharon Macrostomia Syndrome |
|
Fine hair, Sparse hair, Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Breast hypoplasia |
ORPHA:920 |
Sener Syndrome |
|
Coarse hair |
OMIM:606156 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow |
OMIM:616564 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Long eyelashes, Curly hair, Abnormal toenail morphology, Thick hair, Thick... |
ORPHA:444077 |
Cranioectodermal Dysplasia 1 |
|
Fine hair, Short nail, Thin nail, Slow-growing hair, Sparse hair |
OMIM:218330 |
Cockayne Syndrome B |
|
Sparse hair, Abnormal hair morphology, Dry hair, Splenomegaly |
OMIM:133540 |
Menkes Disease |
|
Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Sparse hair, Coarse hair, Alopecia |
ORPHA:2750 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Sparse hair, Coarse hair |
OMIM:607812 |
Cockayne Syndrome A |
|
Sparse hair, Dry hair, Splenomegaly |
OMIM:216400 |
Fontaine Progeroid Syndrome |
|
Small nail, Hypertrichosis, Hypoplastic nipples, Low anterior hairline, Low posterior hairline, C... |
OMIM:612289 |
Cockayne Syndrome Type 3 |
|
Dry hair, Premature graying of hair, Splenomegaly |
ORPHA:90324 |
Oculocerebrorenal Syndrome Of Lowe |
|
Fine hair, Thrombocytopenia, Anemia, Sparse scalp hair |
ORPHA:534 |
Woodhouse-Sakati Syndrome |
|
Fine hair, Sparse hair, Alopecia |
OMIM:241080 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Fine hair, Sparse eyelashes, Onycholysis, Nail dystrophy, Sparse scalp hair, Sparse and thin eyebrow |
OMIM:614748 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
ORPHA:1401 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Severe B lymphocytopenia, Coarse hair |
ORPHA:83617 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Hypoplastic sweat glands, Thick eyebrow, Synophrys |
ORPHA:73223 |
Cockayne Syndrome |
|
Fine hair, Dry hair, Splenomegaly |
ORPHA:191 |
Distal Monosomy 12Q |
|
Fine hair, Small nail |
ORPHA:96149 |
Myhre Syndrome |
|
Fine hair, Sparse hair, Thick eyebrow |
OMIM:139210 |
Coffin-Siris Syndrome 1 |
|
Hypertrichosis, Dry hair, Lumbosacral hirsutism, Hypoplastic fifth fingernail, Facial hypertricho... |
OMIM:135900 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hirsutism, Thoracic hypertrichosis, Long eyelashes, Horizontal eyebrow, Medial flaring of the eye... |
OMIM:619503 |
Zttk Syndrome |
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Broad eyebrow, Curly hair, Sparse eyebrow |
OMIM:617140 |
Melnick-Needles Syndrome |
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Frontal hirsutism, Coarse hair |
OMIM:309350 |
Costello Syndrome |
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Thin nail, Deep-set nails, Curly hair, Fragile nails, Concave nail, Sparse hair |
OMIM:218040 |
Witteveen-Kolk Syndrome |
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Fine hair, Medial flaring of the eyebrow, High anterior hairline |
OMIM:613406 |
Coffin-Lowry Syndrome |
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Highly arched eyebrow, Abnormal hair morphology, Coarse hair, Hyperconvex fingernails, Thick eyebrow |
OMIM:303600 |
Occipital Horn Syndrome |
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Coarse hair |
OMIM:304150 |
Occipital Horn Syndrome |
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Coarse hair, Thick hair |
ORPHA:198 |
Renpenning Syndrome 1 |
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Sparse lateral eyebrow, Brittle hair, Sparse hair |
OMIM:309500 |
Neuroocular Syndrome |
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Highly arched eyebrow, Small nail, Brittle hair, Long eyelashes, Distichiasis, Thick eyebrow, Syn... |
OMIM:619539 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Broad lateral eyebrow, Curly hair, Sparse eyebrow |
ORPHA:500150 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Curly hair, Hypertrichosis, Hypoplastic nipples |
ORPHA:480880 |
Vascular Ehlers-Danlos Syndrome |
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Aplasia/Hypoplasia of the eyebrow, Alopecia, Abnormal eyelash morphology, Abnormality of hair tex... |
ORPHA:286 |
Alström Syndrome |
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Fine hair, Hirsutism, Frontal balding, Splenomegaly, Hepatosplenomegaly |
ORPHA:64 |