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 earlobe morphology (HP:0000363)

Parent Node:
Aplasia/Hypoplasia of the earlobes (HP:0009906)

..Starting node
..Small earlobe (HP:0000385)

Term ID:

385

Name:

Small earlobe

Synonym:

Hypoplastic earlobes; Hypoplastic lobules; Small earlobe; Small earlobes

Definition:

Reduced volume of the earlobe.

Comments:

Reference:

HP:0000385

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent earlobe (HP:0000387)

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:0000385	HP:0000385	Small earlobe	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0000385	HP:0000385	Small earlobe	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0000385	HP:0000385	Small earlobe	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000385	HP:0000385	Small earlobe	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000385	HP:0000385	Small earlobe	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0000385	HP:0000385	Small earlobe	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000385	HP:0000385	Small earlobe	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0000385	HP:0000385	Small earlobe	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000385	HP:0000385	Small earlobe	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000385	HP:0000385	Small earlobe	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000385	HP:0000385	Small earlobe	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0000385	HP:0000385	Small earlobe	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0000385	HP:0000385	Small earlobe	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000385	HP:0000385	Small earlobe	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0000385	HP:0000385	Small earlobe	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000385	HP:0000385	Small earlobe	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0000385	HP:0000385	Small earlobe	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000385	HP:0000385	Small earlobe	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000385	HP:0000385	Small earlobe	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0000385	HP:0000385	Small earlobe	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000385	HP:0000385	Small earlobe	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000385	HP:0000385	Small earlobe	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000385	HP:0000385	Small earlobe	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000385	HP:0000385	Small earlobe	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000385	HP:0000385	Small earlobe	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000385	HP:0000385	Small earlobe	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0000385	HP:0000385	Small earlobe	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000385	HP:0000385	Small earlobe	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC

Genes (26) :ABHD5 AHDC1 ARVCF CDC6 COL2A1 COMT EBF3 FIG4 FN1 GP1BB HIRA HNRNPH1 JMJD1C KAT6A KCTD1 POLR3A PTPRF RBM10 RREB1 SCARF2 SEC24C SLC35C1 SMS TBX1 UFD1 ZMYM2

Diseases (19) :ORPHA:98907 ORPHA:412069 OMIM:615829 ORPHA:567 OMIM:613805 ORPHA:93315 OMIM:617330 OMIM:216340 OMIM:620083 OMIM:616268 ORPHA:2036 OMIM:181270 OMIM:264090 OMIM:616001 ORPHA:2886 OMIM:600920 ORPHA:99843 ORPHA:3063 OMIM:619522

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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