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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: Facies (D019066)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Progeria (D011371)
..Starting node ..Progeroid Facial Appearance with Hand Anomalies (C566563)
Child Nodes:
Sister Nodes:
..Acrogeria, gottron type (C538187)
..Bird headed dwarfism Montreal type (C535448)
..Penttinen-Aula syndrome (C536653)
..Petty Laxova Wiedemann syndrome (C537886)
..Premature Aging Syndrome, Okamoto Type (C566621)
..Progeria short stature pigmented nevi (C536422)
..Progeria Syndrome, Childhood-Onset (C567661)
..Progeroid Facial Appearance with Hand Anomalies (C566563)
..Progeroid Syndrome, Congenital, Petty Type (C567360)
..Progeroid syndrome, neonatal (C536423)
..Ruvalcaba Churesigaew Myhre syndrome (C537190)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9304

Name:

Progeroid Facial Appearance with Hand Anomalies

Definition:

Alternative IDs:

ParentIDs:

MESH:D006228|MESH:D011371|MESH:D019066

TreeNumbers:

C05.390.408/C566563 |C05.660.585.988.425/C566563 |C16.131.621.585.425/C566563 |C16.320.565.753/C566563 |C18.452.648.753/C566563 |C23.550.291.812/C566563

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C566563
MeSH: C566563
OMIM: 602249;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001166	Arachnodactyly
3	HP:0000581	Blepharophimosis
4	HP:0004209	Clinodactyly of the 5th finger
5	HP:0000405	Conductive hearing impairment
6	HP:0010554	Cutaneous finger syndactyly
7	HP:0002007	Frontal bossing
8	HP:0001256	Intellectual disability, mild
9	HP:0009183	Joint contracture of the 5th finger
10	HP:0100807	Long fingers
11	HP:0000252	Microcephaly
12	HP:0000160	Narrow mouth
13	HP:0001562	Oligohydramnios
14	HP:0005328	Progeroid facial appearance
15	HP:0000448	Prominent nose
16	HP:0001015	Prominent superficial veins
17	HP:0000411	Protruding ear
18	HP:0003758	Reduced subcutaneous adipose tissue
19	HP:0000322	Short philtrum
20	HP:0008070	Sparse hair
21	HP:0001636	Tetralogy of Fallot
22	HP:0000233	Thin vermilion border
23	HP:0000582	Upslanted palpebral fissure

Disease Causing ClinVar Variants