Human Phenotype Ontology

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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

Grandparent Node:
Disproportionate short stature (HP:0003498)

Parent Node:
Disproportionate short-limb short stature (HP:0008873)

..Starting node
..Neonatal short-limb short stature (HP:0008921)

Term ID:

8921

Name:

Neonatal short-limb short stature

Synonym:

Dwarfism, neonatal short-limbed; Neonatal short-limbed dwarfism; Short limb dwarfism recognisable at birth; Short limb dwarfism recognizable at birth; Short-limb dwarfism identifiable at birth; Short-limb dwarfism identifiable neonatally; Short-limbed dwarfism identifiable at birth

Definition:

A type of short-limbed dwarfism that is manifest beginning in the neonatal period.

Comments:

Reference:

HP:0008921

Genes and Diseases:

Child Nodes:

Sister Nodes:

Childhood onset short-limb short stature (HP:0011405)

Lethal short-limbed short stature (HP:0008909)

Mesomelic short stature (HP:0008845)

Rhizomelia (HP:0008905)

Severe short-limb dwarfism (HP:0008890)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent	166
HP:0008921	HP:0008921	Neonatal short-limb short stature	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109

Genes (14) :COL1A1 COL1A2 COL2A1 DYNC2LI1 EVC EVC2 FGFR3 GLI1 PRKACA PRKACB PTH1R RMRP SLC26A2 SOX9

Diseases (11) :OMIM:259420 OMIM:151210 ORPHA:289 OMIM:225500 OMIM:100800 ORPHA:50945 OMIM:250250 OMIM:600972 OMIM:222600 ORPHA:628 OMIM:114290

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

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