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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Facies (D019066)
Parent Node: Pierre Robin Syndrome (D010855)
..Starting node ..Pierre Robin Sequence with Facial and Digital Anomalies (C564078)
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:

8927

Name:

Pierre Robin Sequence with Facial and Digital Anomalies

Definition:

Alternative IDs:

ParentIDs:

MESH:D010855|MESH:D019066

TreeNumbers:

C05.500.460.606/C564078 |C05.660.207.540.460.606/C564078 |C07.320.440.606/C564078 |C07.650.500.460.606/C564078 |C16.131.621.207.540.460.606/C564078 |C16.131.850.500.460.606/C564078 |C23.550.291.812/C564078

Synonyms:

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C564078
MeSH: C564078
OMIM: 311895;

Genes:

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0000175	Cleft palate
3	HP:0004209	Clinodactyly of the 5th finger
4	HP:0005747	Easily subluxated first metacarpophalangeal joints
5	HP:0002007	Frontal bossing
6	HP:0000162	Glossoptosis
7	HP:0000348	High forehead
8	HP:0001795	Hyperconvex nail
9	HP:0000347	Micrognathia
10	HP:0000201	Pierre-Robin sequence
11	HP:0009882	Short distal phalanx of finger
12	HP:0001182	Tapered finger

Disease Causing ClinVar Variants