Human Phenotype Ontology

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:0010296	HP:0010296	Ankyloglossia	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0010296	HP:0010296	Ankyloglossia	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0010296	HP:0010296	Ankyloglossia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010296	HP:0010296	Ankyloglossia	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0010296	HP:0010296	Ankyloglossia	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0010296	HP:0010296	Ankyloglossia	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0010296	HP:0010296	Ankyloglossia	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0010296	HP:0010296	Ankyloglossia	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0010296	HP:0010296	Ankyloglossia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0010296	HP:0010296	Ankyloglossia	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0010296	HP:0010296	Ankyloglossia	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0010296	HP:0010296	Ankyloglossia	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040284 - Very rare	57
HP:0010296	HP:0010296	Ankyloglossia	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0010296	HP:0010296	Ankyloglossia	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0010296	HP:0010296	Ankyloglossia	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0010296	HP:0010296	Ankyloglossia	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0010296	HP:0010296	Ankyloglossia	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010296	HP:0010296	Ankyloglossia	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0010296	HP:0010296	Ankyloglossia	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0010296	HP:0010296	Ankyloglossia	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0010296	HP:0010296	Ankyloglossia	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010296	HP:0010296	Ankyloglossia	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010296	HP:0010296	Ankyloglossia	0	TBX22 CL E G H	50945	11600	OMIM:303400	Cleft palate, X-linked	.	28
HP:0010296	HP:0010296	Ankyloglossia	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0010296	HP:0010296	Ankyloglossia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83