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:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease		135
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome		15
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease		192
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome		5
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease		13
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease		67
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDN3 CL E G H	1908	3178	OMIM:613712	Hirschsprung disease, susceptibility to, 4		67
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome		67
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B		67
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome		67
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease		55
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDNRB CL E G H	1910	3180	OMIM:600155	Hirschsprung disease, susceptibility to, 2		55
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2		55
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome		55
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease		77
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease		12
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease		59
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	GDNF CL E G H	2668	4232	OMIM:613711	Hirschsprung disease, susceptibility to, 3		59
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome		59
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait		327
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism		327
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2		9
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis		134
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2		91
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome		91
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease		4
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome		86
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome		86
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome		86
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome		572
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease		572
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1		572
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease		1
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease		2
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease		22
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait		19
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism		19
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2		19
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2		61
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome		61
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease		1
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2		146
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0025028	HP:0025028	Abnormality of enteric nervous system morphology	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0025028	HP:0025029	Abnormality of enteric neuron morphology	1	CL E G H
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease		135
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome		15
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease		192
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome		5
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease		13
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease		67
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDN3 CL E G H	1908	3178	OMIM:613712	Hirschsprung disease, susceptibility to, 4		67
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome		67
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B		67
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome		67
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease		55
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDNRB CL E G H	1910	3180	OMIM:600155	Hirschsprung disease, susceptibility to, 2		55
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2		55
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome		55
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease		77
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease		12
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease		59
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	GDNF CL E G H	2668	4232	OMIM:613711	Hirschsprung disease, susceptibility to, 3		59
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome		59
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait		327
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism		327
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2		9
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis		134
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2		91
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome		91
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease		4
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome		86
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome		86
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome		86
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome		572
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease		572
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1	.	572
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease		1
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease		2
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease		22
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait		19
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism		19
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2		19
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2		61
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome		61
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease		1
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2		146
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0025028	HP:0004362	Abnormality of enteric ganglion morphology	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0025028	HP:0011464	Aganglionosis of the small intestine	2	CL E G H
HP:0025028	HP:0030938	Enteric intraneuronal nuclear inclusion bodies	2	CL E G H
HP:0025028	HP:0025151	Ganglioneuromatosis	2	CL E G H
HP:0025028	HP:0025150	Hypoganglionosis	2	CL E G H
HP:0025028	HP:0025030	Enteric neuronal degeneration	2	CL E G H
HP:0025028	HP:0002251	Aganglionic megacolon	2	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	135
HP:0025028	HP:0002251	Aganglionic megacolon	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0025028	HP:0002251	Aganglionic megacolon	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0025028	HP:0002251	Aganglionic megacolon	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0025028	HP:0002251	Aganglionic megacolon	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0025028	HP:0002251	Aganglionic megacolon	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0025028	HP:0002251	Aganglionic megacolon	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0025028	HP:0002251	Aganglionic megacolon	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0025028	HP:0002251	Aganglionic megacolon	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	HP:0040283 - Occasional	29
HP:0025028	HP:0002251	Aganglionic megacolon	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0025028	HP:0002251	Aganglionic megacolon	2	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040283 - Occasional	166
HP:0025028	HP:0002251	Aganglionic megacolon	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	15
HP:0025028	HP:0002251	Aganglionic megacolon	2	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	192
HP:0025028	HP:0002251	Aganglionic megacolon	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0025028	HP:0002251	Aganglionic megacolon	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0025028	HP:0002251	Aganglionic megacolon	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0025028	HP:0002251	Aganglionic megacolon	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	HP:0040283 - Occasional	114
HP:0025028	HP:0002251	Aganglionic megacolon	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0025028	HP:0002251	Aganglionic megacolon	2	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	5
HP:0025028	HP:0002251	Aganglionic megacolon	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0025028	HP:0002251	Aganglionic megacolon	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0025028	HP:0002251	Aganglionic megacolon	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0025028	HP:0002251	Aganglionic megacolon	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0025028	HP:0002251	Aganglionic megacolon	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	247
HP:0025028	HP:0002251	Aganglionic megacolon	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	HP:0040283 - Occasional	4
HP:0025028	HP:0002251	Aganglionic megacolon	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0025028	HP:0002251	Aganglionic megacolon	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0025028	HP:0002251	Aganglionic megacolon	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0025028	HP:0002251	Aganglionic megacolon	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	342
HP:0025028	HP:0002251	Aganglionic megacolon	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0025028	HP:0002251	Aganglionic megacolon	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0025028	HP:0002251	Aganglionic megacolon	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0025028	HP:0002251	Aganglionic megacolon	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0025028	HP:0002251	Aganglionic megacolon	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0025028	HP:0002251	Aganglionic megacolon	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0025028	HP:0002251	Aganglionic megacolon	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0025028	HP:0002251	Aganglionic megacolon	2	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	13
HP:0025028	HP:0002251	Aganglionic megacolon	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	67
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDN3 CL E G H	1908	3178	OMIM:613712	Hirschsprung disease, susceptibility to, 4	.	67
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	67
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	67
HP:0025028	HP:0005241	Total intestinal aganglionosis	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.	55
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	55
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDNRB CL E G H	1910	3180	OMIM:600155	Hirschsprung disease, susceptibility to, 2	.	55
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	55
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	55
HP:0025028	HP:0002251	Aganglionic megacolon	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0025028	HP:0002251	Aganglionic megacolon	2	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	77
HP:0025028	HP:0002251	Aganglionic megacolon	2	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0025028	HP:0002251	Aganglionic megacolon	2	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	12
HP:0025028	HP:0002251	Aganglionic megacolon	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0025028	HP:0002251	Aganglionic megacolon	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0025028	HP:0002251	Aganglionic megacolon	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0025028	HP:0002251	Aganglionic megacolon	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0025028	HP:0002251	Aganglionic megacolon	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0025028	HP:0002251	Aganglionic megacolon	2	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	59
HP:0025028	HP:0002251	Aganglionic megacolon	2	GDNF CL E G H	2668	4232	OMIM:613711	Hirschsprung disease, susceptibility to, 3	.	59
HP:0025028	HP:0002251	Aganglionic megacolon	2	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	59
HP:0025028	HP:0002251	Aganglionic megacolon	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0025028	HP:0002251	Aganglionic megacolon	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0025028	HP:0002251	Aganglionic megacolon	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0025028	HP:0002251	Aganglionic megacolon	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0025028	HP:0002251	Aganglionic megacolon	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0025028	HP:0002251	Aganglionic megacolon	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0025028	HP:0002251	Aganglionic megacolon	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0025028	HP:0002251	Aganglionic megacolon	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040281 - Very frequent
HP:0025028	HP:0002251	Aganglionic megacolon	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0025028	HP:0002251	Aganglionic megacolon	2	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait	.	327
HP:0025028	HP:0002251	Aganglionic megacolon	2	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional	327
HP:0025028	HP:0002251	Aganglionic megacolon	2	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	9
HP:0025028	HP:0002251	Aganglionic megacolon	2	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0025028	HP:0002251	Aganglionic megacolon	2	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0025028	HP:0002251	Aganglionic megacolon	2	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis	HP:0040283 - Occasional	134
HP:0025028	HP:0002251	Aganglionic megacolon	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0025028	HP:0002251	Aganglionic megacolon	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0025028	HP:0002251	Aganglionic megacolon	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0025028	HP:0002251	Aganglionic megacolon	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	HP:0040283 - Occasional	22
HP:0025028	HP:0002251	Aganglionic megacolon	2	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	91
HP:0025028	HP:0002251	Aganglionic megacolon	2	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	91
HP:0025028	HP:0002251	Aganglionic megacolon	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0025028	HP:0002251	Aganglionic megacolon	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0025028	HP:0002251	Aganglionic megacolon	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0025028	HP:0002251	Aganglionic megacolon	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0025028	HP:0002251	Aganglionic megacolon	2	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0025028	HP:0002251	Aganglionic megacolon	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	85
HP:0025028	HP:0002251	Aganglionic megacolon	2	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	4
HP:0025028	HP:0002251	Aganglionic megacolon	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0025028	HP:0002251	Aganglionic megacolon	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0025028	HP:0002251	Aganglionic megacolon	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040283 - Occasional	59
HP:0025028	HP:0002251	Aganglionic megacolon	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0025028	HP:0002251	Aganglionic megacolon	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0025028	HP:0002251	Aganglionic megacolon	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0025028	HP:0002251	Aganglionic megacolon	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0025028	HP:0002251	Aganglionic megacolon	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	86
HP:0025028	HP:0002251	Aganglionic megacolon	2	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	HP:0040281 - Very frequent	86
HP:0025028	HP:0002251	Aganglionic megacolon	2	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2	HP:0040283 - Occasional	86
HP:0025028	HP:0002251	Aganglionic megacolon	2	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	86
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0025028	HP:0002251	Aganglionic megacolon	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0025028	HP:0002251	Aganglionic megacolon	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0025028	HP:0002251	Aganglionic megacolon	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0025028	HP:0002251	Aganglionic megacolon	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	572
HP:0025028	HP:0002251	Aganglionic megacolon	2	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	572
HP:0025028	HP:0002251	Aganglionic megacolon	2	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1	.	572
HP:0025028	HP:0002251	Aganglionic megacolon	2	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0025028	HP:0002251	Aganglionic megacolon	2	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0025028	HP:0002251	Aganglionic megacolon	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0025028	HP:0002251	Aganglionic megacolon	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0025028	HP:0002251	Aganglionic megacolon	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	167
HP:0025028	HP:0002251	Aganglionic megacolon	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0025028	HP:0002251	Aganglionic megacolon	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0025028	HP:0002251	Aganglionic megacolon	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	1
HP:0025028	HP:0002251	Aganglionic megacolon	2	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	2
HP:0025028	HP:0002251	Aganglionic megacolon	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0025028	HP:0002251	Aganglionic megacolon	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0025028	HP:0002251	Aganglionic megacolon	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0025028	HP:0002251	Aganglionic megacolon	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0025028	HP:0002251	Aganglionic megacolon	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0025028	HP:0002251	Aganglionic megacolon	2	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0025028	HP:0002251	Aganglionic megacolon	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0025028	HP:0002251	Aganglionic megacolon	2	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	22
HP:0025028	HP:0002251	Aganglionic megacolon	2	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait	.	19
HP:0025028	HP:0002251	Aganglionic megacolon	2	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional	19
HP:0025028	HP:0002251	Aganglionic megacolon	2	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	19
HP:0025028	HP:0002251	Aganglionic megacolon	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0025028	HP:0002251	Aganglionic megacolon	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent	61
HP:0025028	HP:0002251	Aganglionic megacolon	2	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	61
HP:0025028	HP:0002251	Aganglionic megacolon	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.	61
HP:0025028	HP:0002251	Aganglionic megacolon	2	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	61
HP:0025028	HP:0002251	Aganglionic megacolon	2	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	1
HP:0025028	HP:0002251	Aganglionic megacolon	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0025028	HP:0002251	Aganglionic megacolon	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0025028	HP:0002251	Aganglionic megacolon	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040284 - Very rare	241
HP:0025028	HP:0002251	Aganglionic megacolon	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0025028	HP:0002251	Aganglionic megacolon	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0025028	HP:0002251	Aganglionic megacolon	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	39
HP:0025028	HP:0002251	Aganglionic megacolon	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	45
HP:0025028	HP:0002251	Aganglionic megacolon	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	33
HP:0025028	HP:0002251	Aganglionic megacolon	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0025028	HP:0002251	Aganglionic megacolon	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	82
HP:0025028	HP:0002251	Aganglionic megacolon	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	82
HP:0025028	HP:0002251	Aganglionic megacolon	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0025028	HP:0002251	Aganglionic megacolon	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0025028	HP:0002251	Aganglionic megacolon	2	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	146
HP:0025028	HP:0002251	Aganglionic megacolon	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0025028	HP:0002251	Aganglionic megacolon	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025028	HP:0002251	Aganglionic megacolon	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0025028	HP:0002251	Aganglionic megacolon	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0025028	HP:0002251	Aganglionic megacolon	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0025028	HP:0002251	Aganglionic megacolon	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0025028	HP:0002251	Aganglionic megacolon	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	49
HP:0025028	HP:0011465	Duodenal aganglionosis	3	CL E G H
HP:0025028	HP:0011286	Total colonic aganglionosis	3	CL E G H
HP:0025028	HP:0011284	Short-segment aganglionic megacolon	3	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0025028	HP:0011285	Long-segment aganglionic megacolon	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0025028	HP:0011284	Short-segment aganglionic megacolon	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61