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:
Abnormality of the incisor (HP:0000676)

Grandparent Node:
Tooth malposition (HP:0000692)

Parent Node:
Misalignment of incisors (HP:0011062)

..Starting node
..Abnormal spaced incisors (HP:0040159)

Term ID:

40159

Name:

Abnormal spaced incisors

Synonym:

Abnormal spaced incisors; Abnormality of spacing of front teeth; Abnormality of spacing of incisors

Definition:

Comments:

Reference:

HP:0040159

Genes and Diseases:

Child Nodes:

........

Widely-spaced incisors (HP:0006304)

................... HP:0001566 Widely-spaced maxillary central incisors

Sister Nodes:

Crowded maxillary incisors (HP:0006333)

Forward slanting upper incisors (HP:0025009)

Rotated maxillary central incisors (HP:0006330)

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:0040159	HP:0040159	Abnormal spaced incisors	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0040159	HP:0040159	Abnormal spaced incisors	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0040159	HP:0040159	Abnormal spaced incisors	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0040159	HP:0040159	Abnormal spaced incisors	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0040159	HP:0040159	Abnormal spaced incisors	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0040159	HP:0040159	Abnormal spaced incisors	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0040159	HP:0040159	Abnormal spaced incisors	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0040159	HP:0040159	Abnormal spaced incisors	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0040159	HP:0040159	Abnormal spaced incisors	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0040159	HP:0040159	Abnormal spaced incisors	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0040159	HP:0040159	Abnormal spaced incisors	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0040159	HP:0040159	Abnormal spaced incisors	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0040159	HP:0040159	Abnormal spaced incisors	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0040159	HP:0040159	Abnormal spaced incisors	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0040159	HP:0040159	Abnormal spaced incisors	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0040159	HP:0040159	Abnormal spaced incisors	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0040159	HP:0006304	Widely-spaced incisors	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0040159	HP:0006304	Widely-spaced incisors	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0040159	HP:0006304	Widely-spaced incisors	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0040159	HP:0006304	Widely-spaced incisors	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0040159	HP:0006304	Widely-spaced incisors	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0040159	HP:0006304	Widely-spaced incisors	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0040159	HP:0006304	Widely-spaced incisors	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0040159	HP:0006304	Widely-spaced incisors	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0040159	HP:0006304	Widely-spaced incisors	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0040159	HP:0006304	Widely-spaced incisors	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0040159	HP:0006304	Widely-spaced incisors	1	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0040159	HP:0006304	Widely-spaced incisors	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0040159	HP:0006304	Widely-spaced incisors	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.	9
HP:0040159	HP:0006304	Widely-spaced incisors	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0040159	HP:0006304	Widely-spaced incisors	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0040159	HP:0001566	Widely-spaced maxillary central incisors	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9

Genes (13) :ABCC9 ALX3 ANKRD11 ATRX CHSY1 DNMT3A DOCK7 FREM1 GATAD2B HRAS RNF2 STAG1 TUBGCP2

Diseases (16) :OMIM:619719 OMIM:136760 ORPHA:2332 OMIM:148050 OMIM:301040 OMIM:309580 ORPHA:363417 ORPHA:404443 ORPHA:411986 OMIM:608980 ORPHA:363686 ORPHA:79414 OMIM:619460 OMIM:617635 ORPHA:502434 OMIM:618737

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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