Disease #00661

Official abbreviation TRPS-1
Name syndrome, trichorhinophalangeal, type I (TRPS-1)
OMIM ID 190350
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 9
Associated with 1 gene TRPS1
Associated tissues -
Disease features -
Remarks autosomal dominant


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00081135 - - - - - Germany - - 0 - - TRPS-1 - TRPS1 TRPS1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00103738 - PubMed: Sasaki 1997 - F no Japan asiatic - 0 - - TRPS-1 , deformities of the middle phalangeal joints of the III and right IV, sparse hair (HP:0008070); Pear-shaped nose (HP:0000447); long philtrum (HP:0000343); Thin vermilion border (HP:0000233); micrognathia (HP:0000347); large prominent ears (HP:0000400); bilateral clinodactyly of the 3rd & 4th fingers; short big toes; normal calcium homeostasis TRPS1 - 0 1 Arrate Pereda
00103753 No 1 PubMed: Momeni 2000 2 generation family, two affected (mother and son) M ? (Germany) - - 0 - - TRPS-1 - TRPS1 TRPS1 1 2 Arrate Pereda
00103770 No 2 PubMed: Momeni 2000 - F - (Germany) - - 0 - - TRPS-1 - TRPS1 TRPS1 1 4 Arrate Pereda
00103771 No 3 PubMed: Momeni 2000 - M - (Germany) - - 0 - - TRPS-1 - TRPS1 TRPS1 1 4 Arrate Pereda
00103775 No 4 PubMed: Momeni 2000 - ? - (Germany) - - 0 - - TRPS-1 - TRPS1 TRPS1 1 1 Arrate Pereda
00103776 No 5 PubMed: Momeni 2000 - F - (Germany) - - 0 - - TRPS-1 - TRPS1 TRPS1 1 1 Arrate Pereda
00103803 No 6 PubMed: Momeni 2000 - M - (Germany) - - 0 - - TRPS-1 - TRPS1 TRPS1 1 1 Arrate Pereda
00116803 tr - - - - Germany - - 0 - - TRPS-1 - TRPS1 TRPS1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00133222 - - - - - - - - 0 - - TRPS-1 - TRPS1 TRPS1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00134069 - NOT PUBLISHED - F no China - - 0 - - TRPS-1 Cone-shaped epiphysis of the middle phalanges; ulnar and radius epiphysis hypoplasia; flattened femoral epiphysis; Sparse scalp hair; bulbous nose TRPS1 TRPS1 1 1 Arrate Pereda
00265864 - - - - - - - - 0 - - TRPS-1 - - TRPS1 1 1 Margot Cousin
00265884 - - - - - - - - 0 - - TRPS-1 - TRPS1 TRPS1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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