MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: Joubert syndrome and related disorders (MONDO:0015369)
Parent Node: short rib-polydactyly syndrome (MONDO:0015461)
..Starting node ..Joubert syndrome with Jeune asphyxiating thoracic dystrophy ()
Child Nodes:
........Joubert syndrome 21 ()
........short-rib thoracic dysplasia 14 with polydactyly ()
Sister Nodes:
..cranioectodermal dysplasia ()
..Jeune syndrome ()
..Joubert syndrome with Jeune asphyxiating thoracic dystrophy ()
..short rib-polydactyly syndrome type 5 ()
..short rib-polydactyly syndrome, Majewski type ()
..short rib-polydactyly syndrome, Saldino-Noonan type ()
..short rib-polydactyly syndrome, Verma-Naumoff type ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18342
Name:	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Definition:	Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	JBTS with JATD; Joubert syndrome with JATD
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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