Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of the tongue (HP:0000157)

Parent Node:
Abnormal tongue morphology (HP:0030809)

..Starting node
..Lobulated tongue (HP:0000180)

Term ID:

180

Name:

Lobulated tongue

Synonym:

Bumpy tongue; Lingual lobules; Lobulate tongue

Definition:

Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.

Comments:

Reference:

HP:0000180

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hyoglossus muscle morphology (HP:3000051)

Abnormal lingual artery morphology (HP:3000074)

Abnormality of lingual tonsil (HP:3000076)

Abnormality of the tongue muscle (HP:0040173)

Ankyloglossia (HP:0010296)

Aplasia/Hypoplasia of the tongue (HP:0010295)

Bifid tongue (HP:0010297)

Duplicated tongue (HP:0040294)

Furrowed tongue (HP:0000221)

Geographic tongue (HP:0025252)

Glossitis (HP:0000206)

Glossoptosis (HP:0000162)

Macroglossia (HP:0000158)

Posteriorly placed tongue (HP:0009087)

Protruding tongue (HP:0010808)

Smooth tongue (HP:0010298)

Stiff tongue (HP:0031373)

Strawberry tongue (HP:0031042)

Tongue atrophy (HP:0012473)

Tongue nodules (HP:0000199)

Tongue telangiectasia (HP:0000227)

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:0000180	HP:0000180	Lobulated tongue	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000180	HP:0000180	Lobulated tongue	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000180	HP:0000180	Lobulated tongue	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000180	HP:0000180	Lobulated tongue	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000180	HP:0000180	Lobulated tongue	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000180	HP:0000180	Lobulated tongue	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.	2
HP:0000180	HP:0000180	Lobulated tongue	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000180	HP:0000180	Lobulated tongue	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0000180	HP:0000180	Lobulated tongue	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0000180	HP:0000180	Lobulated tongue	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0000180	HP:0000180	Lobulated tongue	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0000180	HP:0000180	Lobulated tongue	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000180	HP:0000180	Lobulated tongue	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000180	HP:0000180	Lobulated tongue	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040281 - Very frequent	201
HP:0000180	HP:0000180	Lobulated tongue	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0000180	HP:0000180	Lobulated tongue	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0000180	HP:0000180	Lobulated tongue	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000180	HP:0000180	Lobulated tongue	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0000180	HP:0000180	Lobulated tongue	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0000180	HP:0000180	Lobulated tongue	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0000180	HP:0000180	Lobulated tongue	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0000180	HP:0000180	Lobulated tongue	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0000180	HP:0000180	Lobulated tongue	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61

Genes (16) :C2CD3 CEP120 CPLANE1 DDX59 FAM149B1 KIAA0753 KIF7 MEF2C MKS1 OFD1 PDE6D SCNM1 TCTN3 TMEM216 TMEM231 TOPORS

Diseases (15) :ORPHA:434179 OMIM:615948 OMIM:616300 ORPHA:2754 OMIM:277170 OMIM:174300 OMIM:617127 OMIM:613443 OMIM:249000 OMIM:311200 ORPHA:2750 OMIM:620107 OMIM:614815 OMIM:258860 ORPHA:2752

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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