| Disease Browser
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Parent Node:
 Chromosome Deletion (D002872) | Parent Node:
Craniofacial Abnormalities (D019465) | Parent Node:
Cystinuria (D003555) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Mitochondrial Diseases (D028361) | Parent Node:
Muscle Hypotonia (D009123) | ..Starting node
.. Hypotonia-Cystinuria Syndrome (C564710)
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Child Nodes:
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Sister Nodes: | ..Allan-Herndon-Dudley syndrome (C537047)
| ..Atonic-Astatic Syndrome of Foerster (C565926)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
| ..Carnitine Acetyltransferase Deficiency (C563249)
| ..Cohen syndrome (C536438)
| ..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
| ..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
| ..Der Kaloustian Mcintosh Silver syndrome (C538217)
| ..Emanuel syndrome (C535733)
| ..Ethanolaminosis (C562651)
| ..Fumaric aciduria (C538191)
| ..German Syndrome (C562543)
| ..Grubben de Cock Borghgraef syndrome (C537621)
| ..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
| ..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
| ..Hypotonia, Seizures, And Precocious Puberty (C567566)
| ..Hypotonia-Cystinuria Syndrome (C564710)
| ..Joubert Syndrome 10 (C567582)
| ..Joubert syndrome 3 (C536295)
| ..Joubert syndrome 5 (C537688)
| ..Ketoadipicaciduria (C565453)
| ..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
| ..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
| ..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
| ..Opitz-Kaveggia syndrome (C537923)
| ..Qazi Markouizos syndrome (C536259)
| ..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
| ..Scalp ear nipple syndrome (C536623)
| ..Three M Syndrome 2 (C567862)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 5643 |
| Name: | Hypotonia-Cystinuria Syndrome |
| Definition: | |
| Alternative IDs: | OMIM:606407 |
| ParentIDs: | MESH:D002872|MESH:D003555|MESH:D008607|MESH:D009123|MESH:D019465|MESH:D028361 |
| TreeNumbers: | C05.660.207/C564710 |C10.597.606.643/C564710 |C10.597.613.575/C564710 |C12.777.419.815.885.250/C564710 |C13.351.968.419.815.885.250/C564710 |C16.131.621.207/C564710 |C16.320.565.861.885.250/C564710 |C18.452.648.861.885.250/C564710 |C18.452.660/C564710 |C23.550.21 |
| Synonyms: | Cystinuria with Mitochondrial Disease |HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED |Homozygous 2p21 Deletion Syndrome |
| Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) |
| Reference: |
MedGen: C564710
MeSH: C564710
OMIM: 606407;
Genes: AF8T; | | Phenotypes | | | Disease Causing ClinVar Variants | |
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