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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: Chromosome Deletion (D002872)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Exostoses, Multiple Hereditary (D005097)
..Starting node ..Potocki-Shaffer syndrome (C538356)
Child Nodes:
Sister Nodes:
..Chondrodysplasia, blomstrand type (C537914)
..Dermochondrocorneal dystrophy of François (C535375)
..Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
..Exostoses Of Heel (C563167)
..EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
..EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
..Exostoses, Multiple, Type III (C563975)
..Kniest like dysplasia lethal (C537208)
..Metachondromatosis (C562938)
..Metaphyseal acroscyphodysplasia (C537350)
..Multiple Exostoses with Spastic Tetraparesis (C563566)
..Polyposis, Intestinal, With Multiple Exostoses (C566776)
..Potocki-Shaffer syndrome (C538356)
..Stuve-Wiedemann syndrome (C537502)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9189

Name:

Potocki-Shaffer syndrome

Definition:

Alternative IDs:

OMIM:601224

ParentIDs:

MESH:D002872|MESH:D005097|MESH:D025063

TreeNumbers:

C04.557.450.565.575.610.615.325/C538356 |C04.700.330/C538356 |C05.116.099.708.670.615.325/C538356 |C05.116.540.310.500/C538356 |C16.131.260/C538356 |C16.320.180/C538356 |C16.320.700.330/C538356 |C23.550.210.050.500.500/C538356

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C538356
MeSH: C538356
OMIM: 601224;

Genes: AF8T;

Phenotypes

1	HP:0000248	Brachycephaly	HP:0040284
2	HP:0001156	Brachydactyly	HP:0040284
3	HP:0000337	Broad forehead
4	HP:0001466	Contiguous gene syndrome
5	HP:0004439	Craniofacial dysostosis	HP:0040282
6	HP:0005650	Cutaneous syndactyly between fingers 2 and 5	HP:0040283
7	HP:0000494	Downslanted palpebral fissures
8	HP:0002714	Downturned corners of mouth	HP:0040284
9	HP:0000286	Epicanthus	HP:0040284
10	HP:0000348	High forehead
11	HP:0001252	Hypotonia	HP:0040284
12	HP:0001249	Intellectual disability	HP:0040284
13	HP:0000054	Micropenis	HP:0040284
14	HP:0002762	Multiple exostoses	HP:0040284
15	HP:0002697	Parietal foramina	HP:0040284
16	HP:0001250	Seizure	HP:0040284
17	HP:0003196	Short nose
18	HP:0000322	Short philtrum	HP:0040284
19	HP:0000954	Single transverse palmar crease	HP:0040284
20	HP:0005338	Sparse lateral eyebrow	HP:0040284
21	HP:0000506	Telecanthus	HP:0040284
22	HP:0000262	Turricephaly
23	HP:0000430	Underdeveloped nasal alae
24	HP:0000431	Wide nasal bridge
25	HP:0002645	Wormian bones	HP:0040284

Disease Causing ClinVar Variants