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:
Abnormal pelvic girdle bone morphology (HP:0002644)

Grandparent Node:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormal coccyx morphology (HP:0008519)

..Starting node
..Caudal appendage (HP:0002825)

Term ID:

2825

Name:

Caudal appendage

Synonym:

Coccygeal tail; Human tail

Definition:

The presence of a tail-like skin appendage located adjacent to the sacrum.

Comments:

Reference:

HP:0002825

Genes and Diseases:

Child Nodes:

Sister Nodes:

Long coccyx (HP:0002831)

Prominent coccyx (HP:0040016)

Protruding coccyx (HP:0040017)

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:0002825	HP:0002825	Caudal appendage	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0002825	HP:0002825	Caudal appendage	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0002825	HP:0002825	Caudal appendage	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0002825	HP:0002825	Caudal appendage	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0002825	HP:0002825	Caudal appendage	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0002825	HP:0002825	Caudal appendage	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0002825	HP:0002825	Caudal appendage	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0002825	HP:0002825	Caudal appendage	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (6) :COLEC10 COLEC11 DCHS1 FAT4 MASP1 TRPV4

Diseases (5) :ORPHA:293843 OMIM:265050 ORPHA:314679 OMIM:257920 OMIM:156530

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