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:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional	546
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009906	HP:0009906	Aplasia/Hypoplasia of the earlobes	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0009906	HP:0000385	Small earlobe	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0009906	HP:0000385	Small earlobe	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0009906	HP:0000385	Small earlobe	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0009906	HP:0000385	Small earlobe	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0009906	HP:0000387	Absent earlobe	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0009906	HP:0000387	Absent earlobe	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0009906	HP:0000387	Absent earlobe	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0009906	HP:0000385	Small earlobe	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0009906	HP:0000387	Absent earlobe	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0009906	HP:0000387	Absent earlobe	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0009906	HP:0000387	Absent earlobe	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0009906	HP:0000385	Small earlobe	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0009906	HP:0000387	Absent earlobe	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0009906	HP:0000385	Small earlobe	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0009906	HP:0000387	Absent earlobe	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0009906	HP:0000385	Small earlobe	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0009906	HP:0000387	Absent earlobe	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0009906	HP:0000387	Absent earlobe	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0009906	HP:0000387	Absent earlobe	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0009906	HP:0000385	Small earlobe	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0009906	HP:0000385	Small earlobe	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0009906	HP:0000385	Small earlobe	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0009906	HP:0000385	Small earlobe	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0009906	HP:0000387	Absent earlobe	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0009906	HP:0000385	Small earlobe	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0009906	HP:0000385	Small earlobe	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0009906	HP:0000385	Small earlobe	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0009906	HP:0000385	Small earlobe	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0009906	HP:0000385	Small earlobe	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0009906	HP:0000387	Absent earlobe	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0009906	HP:0000387	Absent earlobe	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0009906	HP:0000387	Absent earlobe	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0009906	HP:0000387	Absent earlobe	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0009906	HP:0000385	Small earlobe	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0009906	HP:0000387	Absent earlobe	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0009906	HP:0000387	Absent earlobe	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0009906	HP:0000385	Small earlobe	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0009906	HP:0000387	Absent earlobe	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0009906	HP:0000385	Small earlobe	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0009906	HP:0000385	Small earlobe	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0009906	HP:0000385	Small earlobe	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0009906	HP:0000385	Small earlobe	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0009906	HP:0000385	Small earlobe	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0009906	HP:0000385	Small earlobe	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0009906	HP:0000385	Small earlobe	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0009906	HP:0000387	Absent earlobe	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0009906	HP:0000385	Small earlobe	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0009906	HP:0000385	Small earlobe	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009906	HP:0000387	Absent earlobe	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68