Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Dwarfism (D004392)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Hernia, Umbilical (D006554)
..Starting node ..Pseudodiastrophic dysplasia (C535826)
Child Nodes:
Sister Nodes:
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..Omphalocele cleft palate syndrome lethal (C537747)
..Omphalocele exstrophy imperforate anus (C537748)
..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..Pseudodiastrophic dysplasia (C535826)
..Shprintzen omphalocele syndrome (C537329)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9411

Name:

Pseudodiastrophic dysplasia

Definition:

Alternative IDs:

ParentIDs:

MESH:D004392|MESH:D006330|MESH:D006554

TreeNumbers:

C05.116.099.343/C535826 |C14.240.400/C535826 |C14.280.400/C535826 |C16.131.240.400/C535826 |C16.320.240/C535826 |C16.614.378/C535826 |C19.297/C535826 |C23.300.707.374.937.500/C535826

Synonyms:

Pseudodiastrophic dwarfism

Slim Mappings:

Reference:

MedGen: C535826
MeSH: C535826
OMIM: 264180;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000463	Anteverted nares
3	HP:0000592	Blue sclerae
4	HP:0000248	Brachycephaly
5	HP:0012385	Camptodactyly
6	HP:0003042	Elbow dislocation
7	HP:0001508	Failure to thrive
8	HP:0001945	Fever
9	HP:0002007	Frontal bossing
10	HP:0003311	Hypoplasia of the odontoid process
11	HP:0002938	Lumbar hyperlordosis
12	HP:0000272	Malar flattening
13	HP:0000347	Micrognathia
14	HP:0011800	Midface retrusion
15	HP:0006243	Phalangeal dislocation
16	HP:0000926	Platyspondyly
17	HP:0002719	Recurrent infections
18	HP:0008905	Rhizomelia
19	HP:0002650	Scoliosis
20	HP:0003510	Severe short stature
21	HP:0000470	Short neck
22	HP:0000319	Smooth philtrum
23	HP:0001762	Talipes equinovarus
24	HP:0005680	Tongue-like lumbar vertebral deformities
25	HP:0000465	Webbed neck

Disease Causing ClinVar Variants