Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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congenital generalized lipodystrophy type 2 |
A congenital generalized lipodystrophy that has_ma..[+]
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congenital generalized lipodystrophy type 3 |
CGL3; BSCL3; Berardinelli-Seip congenital lipodyst..
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A congenital generalized lipodystrophy that has_ma..[+]
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congenital generalized lipodystrophy type 4 |
A congenital generalized lipodystrophy that has_ma..[+]
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congenital mirror movement disorder |
familial congenital controlateral synkinesia; fami..
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A movement disease characterized by involuntary mo..[+]
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Castleman disease |
angiofollicular lymph hyperplasia; angiofollicular..
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A lymphoproliferative syndrome characterized by on..[+]
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camptodactyly-tall stature-scoliosis-hearing loss syndrome |
CATSHL syndrome
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A syndrome characterized by camptodactyly, tall st..[+]
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Crouzon syndrome-acanthosis nigricans syndrome |
A syndrome characterized by Crouzon-like features,..[+]
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centronuclear myopathy 2 |
CNM2
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An autosomal recessive centronuclear myopathy that..[+]
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centronuclear myopathy 6 with fiber-type disproportion |
CNM6
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An autosomal recessive centronuclear myopathy that..[+]
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centronuclear myopathy X-linked |
CNMX; MTM1; myotubular myopathy 1; X-linked myotub..
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A centronuclear myopathy that has_material_basis_i..[+]
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congenital muscular dystrophy-dystroglycanopathy type A |
congenital muscular alpha-dystroglycanopathy with ..
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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cerebrocostomandibular syndrome |
A syndrome characterized by severe micrognathia, p..[+]
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combined malonic and methylmalonic acidemia |
An organic acidemia characterized by elevated leve..[+]
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CODAS syndrome |
cerebral, ocular, dental, auricular, and skeletal ..
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A syndrome characterized by developmental delay, a..[+]
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combined saposin deficiency |
combined SAP deficiency; encephalopathy due to pro..
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A sphingolipidosis characterized by absence of exp..[+]
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congenital leptin deficiency |
LEPD; morbid obesity; obesity due to congenital le..
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A syndrome characterized by severe early-onset obe..[+]
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craniofacial-deafness-hand syndrome |
CDHS; Sommer-Young-Wee-Frye syndrome
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A syndrome characterized by a flat facial profile,..[+]
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cholesterol-ester transfer protein deficiency |
CEPT deficiency; familial hyperalphalipoproteinemi..
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A lipid metabolism disorder characterized by eleva..[+]
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congenital dyserythropoietic anemia type I |
A congenital dyserythropoietic anemia characterize..[+]
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congenital dyserythropoietic anemia type Ib |
CDAN1B; CDA, type Ib
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A congenital dyserythropoietic anemia type I that ..[+]
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congenital dyserythropoietic anemia type Ia |
CDAN1A; CDA Ia
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A congenital dyserythropoietic anemia type I that ..[+]
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congenital dyserythropoietic anemia type III |
A congenital dyserythropoietic anemia characterize..[+]
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congenital dyserythropoietic anemia type IV |
A congenital dyserythropoietic anemia characterize..[+]
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congenital dyserythropoietic anemia type II |
A congenital dyserythropoietic anemia characterize..[+]
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classic galactosemia |
galactose-1-phosphate uridyltransferase deficiency..
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A galactosemia that has_material_basis_in homozygo..[+]
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cardiofaciocutaneous syndrome 1 |
CFC1
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A cardiofaciocutaneous syndrome that has_material_..[+]
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cardiofaciocutaneous syndrome 2 |
CFC2
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A cardiofaciocutaneous syndrome that has_material_..[+]
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cardiofaciocutaneous syndrome 3 |
CFC3
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A cardiofaciocutaneous syndrome that has_material_..[+]
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cardiofaciocutaneous syndrome 4 |
CFC4
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A cardiofaciocutaneous syndrome that has_material_..[+]
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combined oxidative phosphorylation deficiency 35 |
COXPD35
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 21 |
COXPD21
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 38 |
COXPD38
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 13 |
COXPD13
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 25 |
COXPD25
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 16 |
COXPD16; infantile hypertrophic cardiomyopathy due..
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 28 |
COXPD28; neonatal severe cardiopulmonary failure d..
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 30 |
COXPD30
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 9 |
COXPD9
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 5 |
COXPD5; hypotonia with lactic acidemia and hyperam..
[+]
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 1 |
COXPD1; early fatal progressive hepatoencephalopat..
[+]
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 39 |
COXPD39
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 19 |
COXPD19; severe neonatal lactic acidosis due to NF..
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 14 |
COXPD14
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 20 |
COXPD20
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 8 |
COXPD8
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 10 |
COXPD10; infantile hypertrophic mitochondrial card..
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 11 |
COXPD11; infantile encephaloneuromyopathy due to m..
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 36 |
COXPD36
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 2 |
COXPD2; agenesis of corpus callosum with dysmorphi..
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 18 |
COXPD18; growth and developmental delay-hypotonia-..
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A combined oxidative phosphorylation deficiency ch..[+]
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