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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

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Disease Browser
Parent Node: Campomelic Dysplasia (D055036)
Parent Node: Pierre Robin Syndrome (D010855)
..Starting node ..Pierre Robin sequence with pectus excavatum and rib and scapular anomalies (C535775)
Child Nodes:
Sister Nodes:
..Catel Manzke syndrome (C535347)
..Chitayat Meunier Hodgkinson syndrome (C535926)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Femoral facial syndrome (C537916)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Pierre Robin Sequence with Facial and Digital Anomalies (C564078)
..Pierre Robin sequence with pectus excavatum and rib and scapular anomalies (C535775)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Radial defect Robin sequence (C536261)
..Richieri Costa Pereira syndrome (C535677)
..Robin sequence and oligodactyly (C535688)
..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..Sanderson Fraser syndrome (C537232)
..Stevenson-Carey Syndrome (C567446)
..Stoll Alembik Dott syndrome (C537497)
..TARP syndrome (C536942)
..Thrombocytopenia Robin sequence (C536898)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8928

Name:

Pierre Robin sequence with pectus excavatum and rib and scapular anomalies

Definition:

Alternative IDs:

ParentIDs:

MESH:D010855|MESH:D055036

TreeNumbers:

C05.500.460.606/C535775 |C05.660.142/C535775 |C05.660.207.540.460.606/C535775 |C07.320.440.606/C535775 |C07.650.500.460.606/C535775 |C16.131.621.142/C535775 |C16.131.621.207.540.460.606/C535775 |C16.131.850.500.460.606/C535775

Synonyms:

Campomelic dysplasia, mild

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C535775
MeSH: C535775
OMIM: 602196;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001965	Abnormal scalp morphology
3	HP:0000772	Abnormality of the ribs
4	HP:0000175	Cleft palate
5	HP:0001290	Generalized hypotonia
6	HP:0006631	Hypoplastic distal segments of scapulae
7	HP:0001252	Hypotonia
8	HP:0001382	Joint hypermobility
9	HP:0000347	Micrognathia
10	HP:0000767	Pectus excavatum
11	HP:0000201	Pierre-Robin sequence
12	HP:0000465	Webbed neck

Disease Causing ClinVar Variants