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 soft palate morphology (HP:0100736)

Parent Node:
Abnormal uvula morphology (HP:0000172)

..Starting node
..Aplasia/Hypoplasia of the uvula (HP:0010293)

Term ID:

10293

Name:

Aplasia/Hypoplasia of the uvula

Synonym:

Aplasia/hypoplasia of palatine uvula

Definition:

Underdevelopment or absence of the uvula.

Comments:

Reference:

HP:0010293

Genes and Diseases:

Child Nodes:

........

Absent uvula (HP:0010292)

........

Short uvula (HP:0010812)

Sister Nodes:

Abnormality of uvular muscle (HP:0430017)

Bifid uvula (HP:0000193)

Broad uvula (HP:0010809)

Long uvula (HP:0010810)

Narrow uvula (HP:0010811)

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:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0010293	HP:0010293	Aplasia/Hypoplasia of the uvula	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0010293	HP:0010292	Absent uvula	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0010293	HP:0010292	Absent uvula	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0010293	HP:0010292	Absent uvula	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0010293	HP:0010812	Short uvula	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010293	HP:0010292	Absent uvula	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0010293	HP:0010812	Short uvula	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010293	HP:0010812	Short uvula	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136

Genes (28) :BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM MAD2L2 NXN PALB2 PI4KA PRR12 RAD51 RAD51C RFWD3 ROR2 SLX4 SPTBN1 UBE2T WDR35 XRCC2

Diseases (8) :ORPHA:84 OMIM:618529 OMIM:619708 OMIM:616531 OMIM:619539 OMIM:268310 OMIM:619475 OMIM:614091

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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