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:0000460	HP:0000460	Narrow nose	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000460	HP:0000460	Narrow nose	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0000460	HP:0000460	Narrow nose	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000460	HP:0000460	Narrow nose	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000460	HP:0000460	Narrow nose	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000460	HP:0000460	Narrow nose	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000460	HP:0000460	Narrow nose	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0000460	HP:0000460	Narrow nose	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0000460	HP:0000460	Narrow nose	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.	135
HP:0000460	HP:0000460	Narrow nose	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000460	HP:0000460	Narrow nose	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000460	HP:0000460	Narrow nose	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0000460	HP:0000460	Narrow nose	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000460	HP:0000460	Narrow nose	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0000460	HP:0000460	Narrow nose	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0000460	HP:0000460	Narrow nose	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0000460	HP:0000460	Narrow nose	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0000460	HP:0000460	Narrow nose	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000460	HP:0000460	Narrow nose	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0000460	HP:0000460	Narrow nose	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000460	HP:0000460	Narrow nose	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000460	HP:0000460	Narrow nose	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000460	HP:0000460	Narrow nose	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000460	HP:0000460	Narrow nose	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000460	HP:0000460	Narrow nose	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0000460	HP:0000460	Narrow nose	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18