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:0000363	HP:0000363	Abnormal earlobe morphology	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome		8
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV	.	270
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000363	HP:0000363	Abnormal earlobe morphology	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000363	HP:0004461	Congenital earlobe sinuses	1	CL E G H
HP:0000363	HP:0031511	Diagonal earlobe crease	1	CL E G H
HP:0000363	HP:0031510	Linear earlobe crease	1	CL E G H
HP:0000363	HP:0011263	Forward facing earlobe	1	CL E G H
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0000363	HP:0009909	Uplifted 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:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000363	HP:0009909	Uplifted earlobe	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000363	HP:0009748	Large earlobe	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000363	HP:0009909	Uplifted earlobe	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.	38
HP:0000363	HP:0009908	Anterior creases of earlobe	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000363	HP:0009748	Large earlobe	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000363	HP:0009748	Large earlobe	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000363	HP:0009909	Uplifted earlobe	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000363	HP:0009907	Attached earlobe	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000363	HP:0009748	Large earlobe	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000363	HP:0011265	Cleft earlobe	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000363	HP:0009748	Large earlobe	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000363	HP:0009748	Large earlobe	1	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:0000363	HP:0009748	Large earlobe	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000363	HP:0009748	Large earlobe	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0000363	HP:0009909	Uplifted earlobe	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0000363	HP:0009748	Large earlobe	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0000363	HP:0009748	Large earlobe	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0000363	HP:0009748	Large earlobe	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000363	HP:0009748	Large earlobe	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000363	HP:0009908	Anterior creases of earlobe	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000363	HP:0009908	Anterior creases of earlobe	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000363	HP:0009909	Uplifted earlobe	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0000363	HP:0011265	Cleft earlobe	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000363	HP:0009907	Attached earlobe	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000363	HP:0009748	Large earlobe	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional	113
HP:0000363	HP:0009907	Attached earlobe	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000363	HP:0009909	Uplifted earlobe	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000363	HP:0009909	Uplifted earlobe	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0000363	HP:0011265	Cleft earlobe	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000363	HP:0009909	Uplifted earlobe	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000363	HP:0009748	Large earlobe	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000363	HP:0011265	Cleft earlobe	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000363	HP:0009748	Large earlobe	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000363	HP:0009909	Uplifted earlobe	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000363	HP:0009907	Attached earlobe	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000363	HP:0009748	Large earlobe	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:0000363	HP:0009748	Large earlobe	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0000363	HP:0009909	Uplifted earlobe	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000363	HP:0009909	Uplifted earlobe	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000363	HP:0009748	Large earlobe	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000363	HP:0009748	Large earlobe	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:0000363	HP:0009748	Large earlobe	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000363	HP:0009908	Anterior creases of earlobe	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000363	HP:0009907	Attached earlobe	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0000363	HP:0009748	Large earlobe	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0000363	HP:0009909	Uplifted earlobe	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000363	HP:0009748	Large earlobe	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent	166
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0000363	HP:0009909	Uplifted earlobe	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000363	HP:0009907	Attached earlobe	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000363	HP:0009748	Large earlobe	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000363	HP:0009748	Large earlobe	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000363	HP:0009909	Uplifted earlobe	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000363	HP:0009908	Anterior creases of earlobe	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000363	HP:0009748	Large earlobe	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000363	HP:0009748	Large earlobe	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:0000363	HP:0009748	Large earlobe	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000363	HP:0009748	Large earlobe	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional	546
HP:0000363	HP:0009748	Large earlobe	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000363	HP:0009748	Large earlobe	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000363	HP:0009909	Uplifted earlobe	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000363	HP:0009748	Large earlobe	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000363	HP:0009909	Uplifted earlobe	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000363	HP:0009909	Uplifted earlobe	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000363	HP:0009906	Aplasia/Hypoplasia of the earlobes	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000363	HP:0000385	Small earlobe	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0000363	HP:0000385	Small earlobe	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0000363	HP:0000385	Small earlobe	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000363	HP:0000385	Small earlobe	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000363	HP:0000387	Absent earlobe	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0000363	HP:0000387	Absent earlobe	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0000363	HP:0000387	Absent earlobe	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0000363	HP:0000385	Small earlobe	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0000363	HP:0000387	Absent earlobe	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0000363	HP:0000387	Absent earlobe	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0000363	HP:0000387	Absent earlobe	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0000363	HP:0000385	Small earlobe	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000363	HP:0000387	Absent earlobe	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0000363	HP:0000385	Small earlobe	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0000363	HP:0000387	Absent earlobe	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000363	HP:0000385	Small earlobe	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000363	HP:0000387	Absent earlobe	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000363	HP:0000387	Absent earlobe	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0000363	HP:0000387	Absent earlobe	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000363	HP:0000385	Small earlobe	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000363	HP:0000385	Small earlobe	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000363	HP:0000385	Small earlobe	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0000363	HP:0000385	Small earlobe	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0000363	HP:0000387	Absent earlobe	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000363	HP:0000385	Small earlobe	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000363	HP:0000385	Small earlobe	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0000363	HP:0000385	Small earlobe	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000363	HP:0000385	Small earlobe	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0000363	HP:0000385	Small earlobe	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000363	HP:0000387	Absent earlobe	2	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000363	HP:0000387	Absent earlobe	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0000363	HP:0000387	Absent earlobe	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0000363	HP:0000387	Absent earlobe	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0000363	HP:0000385	Small earlobe	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000363	HP:0000387	Absent earlobe	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000363	HP:0000387	Absent earlobe	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000363	HP:0000385	Small earlobe	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0000363	HP:0000387	Absent earlobe	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0000363	HP:0000385	Small earlobe	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000363	HP:0000385	Small earlobe	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000363	HP:0000385	Small earlobe	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000363	HP:0000385	Small earlobe	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000363	HP:0000385	Small earlobe	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000363	HP:0000385	Small earlobe	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000363	HP:0000385	Small earlobe	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0000363	HP:0000387	Absent earlobe	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0000363	HP:0000385	Small earlobe	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000363	HP:0000385	Small earlobe	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000363	HP:0000387	Absent earlobe	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68