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 finger flexion creases (HP:0006143)

Parent Node:
Absent phalangeal crease (HP:0006109)

..Starting node
..Absent distal interphalangeal creases (HP:0001032)

Term ID:

1032

Name:

Absent distal interphalangeal creases

Synonym:

Absence of skin creases over distal interphalangeal joints; Aplasia of the distal interphalangeal creases; Distal finger flexion creases absent

Definition:

Absence of the distal interphalangeal flexion creases of the fingers.

Comments:

Reference:

HP:0001032

Genes and Diseases:

Child Nodes:

........

Absent fourth finger distal interphalangeal crease (HP:0005780)

Sister Nodes:

Absent proximal finger flexion creases (HP:0006077)

Single interphalangeal crease of fifth finger (HP:0006216)

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:0001032	HP:0001032	Absent distal interphalangeal creases	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0001032	HP:0001032	Absent distal interphalangeal creases	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0001032	HP:0001032	Absent distal interphalangeal creases	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001032	HP:0001032	Absent distal interphalangeal creases	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0001032	HP:0001032	Absent distal interphalangeal creases	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0001032	HP:0001032	Absent distal interphalangeal creases	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0001032	HP:0005780	Absent fourth finger distal interphalangeal crease	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0001032	HP:0005780	Absent fourth finger distal interphalangeal crease	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1

Genes (6) :HOXD13 IHH LMX1B RBBP8 TLK2 TPM2

Diseases (6) :OMIM:186300 OMIM:112500 OMIM:161200 OMIM:251255 OMIM:618050 OMIM:108120

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