Term ID: 3180
Name: Flat acetabular roof
Synonym: Acetabular angle flat; Flat acetabular roofs; Flattened acetabular roof; Horizontal acetabulae; Horizontal acetabular roof; Horizontal acetabular roofs
Definition: Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Comments:
Reference: HP:0003180
Genes and Diseases: Child Nodes: Sister Nodes: ..Acetabular dysplasia (HP:0008807) ..Acetabular spurs (HP:0010454) ..Hypoplastic acetabulae (HP:0003274) ..Irregular acetabular roof (HP:0008833) ..Protrusio acetabuli (HP:0003179) ..Shallow acetabular fossae (HP:0003182) ..Steep acetabular roof (HP:0010455) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0003180 HP:0003180 Flat acetabular roof 0 BGN CL E G H 633 1044 OMIM:300106 Spondyloepimetaphyseal dysplasia, X-linked . 7 HP:0003180 HP:0003180 Flat acetabular roof 0 CANT1 CL E G H 124583 19721 OMIM:251450 Desbuquois dysplasia 1 . 85 HP:0003180 HP:0003180 Flat acetabular roof 0 CANT1 CL E G H 124583 19721 OMIM:617719 EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 85 HP:0003180 HP:0003180 Flat acetabular roof 0 CEP120 CL E G H 153241 26690 OMIM:616300 Short-Rib thoracic dysplasia 13 with or without polydactyly . 7 HP:0003180 HP:0003180 Flat acetabular roof 0 CHD4 CL E G H 1108 1919 OMIM:617159 Sifrim-Hitz-Weiss syndrome . 14 HP:0003180 HP:0003180 Flat acetabular roof 0 COG1 CL E G H 9382 6545 ORPHA:263508 COG1-CDG HP:0040283 - Occasional 52 HP:0003180 HP:0003180 Flat acetabular roof 0 COL2A1 CL E G H 1280 2200 OMIM:151210 Platyspondylic lethal skeletal dysplasia, Torrance type . 284 HP:0003180 HP:0003180 Flat acetabular roof 0 COL2A1 CL E G H 1280 2200 ORPHA:94068 Spondyloepiphyseal dysplasia congenita HP:0040282 - Frequent 284 HP:0003180 HP:0003180 Flat acetabular roof 0 COL2A1 CL E G H 1280 2200 OMIM:271700 Spondyloperipheral dysplasia . 284 HP:0003180 HP:0003180 Flat acetabular roof 0 COMP CL E G H 1311 2227 ORPHA:750 Pseudoachondroplasia HP:0040283 - Occasional 89 HP:0003180 HP:0003180 Flat acetabular roof 0 CSGALNACT1 CL E G H 55790 24290 OMIM:618870 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA HP:0003180 HP:0003180 Flat acetabular roof 0 DYM CL E G H 54808 21317 OMIM:223800 Dyggve-Melchior-Clausen disease . 65 HP:0003180 HP:0003180 Flat acetabular roof 0 FGFR3 CL E G H 2261 3690 ORPHA:15 Achondroplasia HP:0040283 - Occasional 145 HP:0003180 HP:0003180 Flat acetabular roof 0 FIG4 CL E G H 9896 16873 OMIM:216340 Yunis-Varon syndrome 111 HP:0003180 HP:0003180 Flat acetabular roof 0 FLNB CL E G H 2317 3755 OMIM:108721 Atelosteogenesis, type III . 233 HP:0003180 HP:0003180 Flat acetabular roof 0 GNPTAB CL E G H 79158 29670 OMIM:252500 Mucolipidosis II alpha/beta . 240 HP:0003180 HP:0003180 Flat acetabular roof 0 GPX4 CL E G H 2879 4556 OMIM:250220 Spondylometaphyseal dysplasia, Sedaghatian type . 3 HP:0003180 HP:0003180 Flat acetabular roof 0 IFT52 CL E G H 51098 15901 OMIM:617102 Short-Rib thoracic dysplasia 16 with or without polydactyly . 4 HP:0003180 HP:0003180 Flat acetabular roof 0 INPPL1 CL E G H 3636 6080 OMIM:258480 OPSISMODYSPLASIA . 18 HP:0003180 HP:0003180 Flat acetabular roof 0 LYSET CL E G H 26175 20218 OMIM:619345 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN HP:0003180 HP:0003180 Flat acetabular roof 0 MATN3 CL E G H 4148 6909 OMIM:608728 Spondyloepimetaphyseal dysplasia, matrilin-3 related . 32 HP:0003180 HP:0003180 Flat acetabular roof 0 NANS CL E G H 54187 19237 OMIM:610442 Spondyloepimetaphyseal dysplasia, Genevieve type . 8 HP:0003180 HP:0003180 Flat acetabular roof 0 PTH1R CL E G H 5745 9608 OMIM:600002 Eiken syndrome 58 HP:0003180 HP:0003180 Flat acetabular roof 0 SLC26A2 CL E G H 1836 10994 OMIM:256050 Atelosteogenesis, type II 166 HP:0003180 HP:0003180 Flat acetabular roof 0 SLC35D1 CL E G H 23169 20800 OMIM:269250 Schneckenbecken dysplasia . 9 HP:0003180 HP:0003180 Flat acetabular roof 0 TRIP11 CL E G H 9321 12305 OMIM:184260 Osteochondrodysplasia . 133 HP:0003180 HP:0003180 Flat acetabular roof 0 TRPV4 CL E G H 59341 18083 OMIM:156530 Metatropic dysplasia 214 HP:0003180 HP:0003180 Flat acetabular roof 0 TRPV4 CL E G H 59341 18083 OMIM:184252 Spondylometaphyseal dysplasia, Kozlowski type . 214 HP:0003180 HP:0003180 Flat acetabular roof 0 TRPV4 CL E G H 59341 18083 ORPHA:93314 Spondylometaphyseal dysplasia, Kozlowski type HP:0040283 - Occasional 214 HP:0003180 HP:0003180 Flat acetabular roof 0 WDR35 CL E G H 57539 29250 OMIM:614091 Short-Rib thoracic dysplasia 7 with or without polydactyly . 136 HP:0003180 HP:0003180 Flat acetabular roof 0 XYLT1 CL E G H 64131 15516 OMIM:615777 Desbuquois dysplasia 2 . 14
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
