Human Phenotype Ontology 
Grandparent Node:
expandAbnormal rib morphology (HP:0000772)help
Parent Node:
expandCupped ribs (HP:0000887)help
..Starting node
..expandAnterior rib cupping (HP:0000907)help
Term ID: 907
Name: Anterior rib cupping
Synonym: Anterior cupping of ribs; Anteriorly splayed ribs
Definition: Wide, concave anterior rib end.
Comments:
Reference: HP:0000907
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFlared, irregular rib ends (HP:0006603) help
..expandPosterior rib cupping (HP:0000922) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000907HP:0000907Anterior rib cupping0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0000907HP:0000907Anterior rib cupping0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0000907HP:0000907Anterior rib cupping0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0000907HP:0000907Anterior rib cupping0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040282 - Frequent79
HP:0000907HP:0000907Anterior rib cupping0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0000907HP:0000907Anterior rib cupping0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0000907HP:0000907Anterior rib cupping0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0000907HP:0000907Anterior rib cupping0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000907HP:0000907Anterior rib cupping0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0000907HP:0000907Anterior rib cupping0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 21
HP:0000907HP:0000907Anterior rib cupping0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0000907HP:0000907Anterior rib cupping0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000907HP:0000907Anterior rib cupping0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000907HP:0000907Anterior rib cupping0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0000907HP:0000907Anterior rib cupping0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0000907HP:0000907Anterior rib cupping0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1


Genes (16) :ADA AIFM1 CFAP410 COL10A1 COL11A1 COL2A1 DDR2 DLK1 DNAJC21 EFL1 INPPL1 MEG3 RTL1 SBDS SLC35D1 SRP54

Diseases (12) :OMIM:102700 OMIM:300232 OMIM:602271 ORPHA:174 OMIM:228520 OMIM:184250 OMIM:271665 ORPHA:96334 OMIM:260400 OMIM:617941 OMIM:258480 OMIM:269250
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.