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:0025116	HP:0025116	Fetal distress	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0025116	HP:0025116	Fetal distress	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0025116	HP:0025116	Fetal distress	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0025116	HP:0025116	Fetal distress	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0025116	HP:0025116	Fetal distress	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.	227
HP:0025116	HP:0025116	Fetal distress	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0025116	HP:0025116	Fetal distress	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0025116	HP:0025116	Fetal distress	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0025116	HP:0025116	Fetal distress	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0025116	HP:0025116	Fetal distress	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0025116	HP:0025116	Fetal distress	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0025116	HP:0025116	Fetal distress	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0025116	HP:0025116	Fetal distress	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0025116	HP:0025116	Fetal distress	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0025116	HP:0025116	Fetal distress	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0025116	HP:0025116	Fetal distress	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	61
HP:0025116	HP:0025116	Fetal distress	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0025116	HP:0025116	Fetal distress	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0025116	HP:0025116	Fetal distress	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025116	HP:0025116	Fetal distress	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46		5
HP:0025116	HP:0025116	Fetal distress	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0025116	HP:0025116	Fetal distress	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0025116	HP:0025116	Fetal distress	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0025116	HP:0025116	Fetal distress	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0025116	HP:0025116	Fetal distress	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	7
HP:0025116	HP:0025116	Fetal distress	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	32
HP:0025116	HP:0025116	Fetal distress	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	1
HP:0025116	HP:0025116	Fetal distress	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	40
HP:0025116	HP:0025116	Fetal distress	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	26
HP:0025116	HP:0025116	Fetal distress	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	31
HP:0025116	HP:0025116	Fetal distress	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	50
HP:0025116	HP:0025116	Fetal distress	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	34
HP:0025116	HP:0025116	Fetal distress	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0025116	HP:0025116	Fetal distress	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0025116	HP:0025116	Fetal distress	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	3
HP:0025116	HP:0025116	Fetal distress	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	9
HP:0025116	HP:0025116	Fetal distress	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	16
HP:0025116	HP:0025116	Fetal distress	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	81
HP:0025116	HP:0025116	Fetal distress	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	65
HP:0025116	HP:0025116	Fetal distress	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	22
HP:0025116	HP:0025116	Fetal distress	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	27
HP:0025116	HP:0025116	Fetal distress	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	21
HP:0025116	HP:0025116	Fetal distress	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	38
HP:0025116	HP:0025116	Fetal distress	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	42
HP:0025116	HP:0025116	Fetal distress	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	74
HP:0025116	HP:0025116	Fetal distress	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	27
HP:0025116	HP:0025116	Fetal distress	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	89
HP:0025116	HP:0025116	Fetal distress	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040283 - Occasional	73
HP:0025116	HP:0025116	Fetal distress	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0025116	HP:0025116	Fetal distress	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0025116	HP:0025116	Fetal distress	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6
HP:0025116	HP:0025116	Fetal distress	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0025116	HP:0025116	Fetal distress	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0025116	HP:0025116	Fetal distress	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0025116	HP:0025116	Fetal distress	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0025116	HP:0025116	Fetal distress	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	1
HP:0025116	HP:0025116	Fetal distress	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional	4
HP:0025116	HP:0025116	Fetal distress	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0025116	HP:0025116	Fetal distress	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2