Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of enteric nervous system morphology (HP:0025028)

Parent Node:
Abnormality of enteric ganglion morphology (HP:0004362)

..Starting node
..Aganglionic megacolon (HP:0002251)

Term ID:

2251

Name:

Aganglionic megacolon

Synonym:

Congenital megacolon; Enlarged colon lacking nerve cells; Hirschsprung disease; Hirschsprung megacolon; Megacolon

Definition:

An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.

Comments:

Reference:

HP:0002251

Genes and Diseases:

Child Nodes:

........

Short-segment aganglionic megacolon (HP:0011284)

........

Long-segment aganglionic megacolon (HP:0011285)

........

Total colonic aganglionosis (HP:0011286)

Sister Nodes:

Aganglionosis of the small intestine (HP:0011464)

Ganglioneuromatosis (HP:0025151)

Hypoganglionosis (HP:0025150)

Total intestinal aganglionosis (HP:0005241)

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

Genes (126) :ABCD1 ACTG2 AHI1 APC2 ARL13B ARL3 ARL6 ARMC9 ARVCF ARX ASCL1 ATP7A ATRX B9D1 B9D2 BBS1 BCOR BDNF BRCA1 BRCA2 BRIP1 CBY1 CC2D2A CCDC28B CEP104 CEP120 CEP290 CEP41 COMT CPLANE1 CSPP1 DDX59 DHCR7 ECE1 EDN3 EDNRB ERBB2 ERBB3 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FOXF1 GATA1 GDNF GP1BB HIRA HYLS1 INPP5E JMJD1C KATNIP KIAA0586 KIFBP KIT KITLG KRAS L1CAM MAD2L2 MBTPS2 MITF MKKS MKS1 MYO1H NAA10 NPHP1 NRTN NSD1 PALB2 PAX3 PGAP2 PGAP3 PHOX2B PIBF1 PIGL PIGN PIGO PIGV PIGW PIGY RAD51 RAD51C RET RFWD3 RMRP RPGRIP1L RREB1 SALL4 SEC24C SEMA3C SEMA3D SETBP1 SETD2 SF3B4 SH2B1 SLC6A8 SLX4 SMO SNAI2 SOX10 SREBF1 SUFU TBX1 TCF4 TCTN1 TCTN2 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TUBA1A TYR UBE2T UFD1 XRCC2 ZEB2 ZNF423

Diseases (73) :ORPHA:388 ORPHA:2604 OMIM:155310 ORPHA:475 ORPHA:220493 ORPHA:821 OMIM:209900 ORPHA:567 ORPHA:452 ORPHA:99803 ORPHA:847 OMIM:309800 ORPHA:661 ORPHA:84 ORPHA:2318 ORPHA:2919 OMIM:270400 ORPHA:818 OMIM:613870 OMIM:613712 OMIM:613265 ORPHA:897 OMIM:600501 OMIM:600155 ORPHA:895 OMIM:277580 OMIM:619465 OMIM:243180 ORPHA:210122 OMIM:190685 OMIM:613711 ORPHA:66629 OMIM:609460 OMIM:172800 ORPHA:2884 ORPHA:3339 OMIM:304100 ORPHA:1497 ORPHA:85284 ORPHA:2273 OMIM:308205 OMIM:236700 ORPHA:2473 ORPHA:220497 ORPHA:894 OMIM:148820 ORPHA:247262 OMIM:209880 ORPHA:2151 OMIM:613013 ORPHA:2059 OMIM:614749 OMIM:239300 OMIM:142623 OMIM:171400 OMIM:162300 ORPHA:175 OMIM:250250 ORPHA:959 OMIM:607323 ORPHA:798 OMIM:154400 ORPHA:261222 OMIM:300352 ORPHA:52503 OMIM:609136 ORPHA:163746 OMIM:613266 ORPHA:2896 ORPHA:171680 OMIM:235730 ORPHA:261552 ORPHA:261537

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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