Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0001438	Abnormal abdomen morphology	0	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0033134	Abdominal adhesions	1	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0031607	Pelvic organ prolapse	1	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0001541	Ascites	1	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0031501	Pelvic mass	1	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0003271	Visceromegaly	1	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0031500	Abdominal mass	1	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0005217	Duplication of internal organs	1	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0001541	Ascites	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0031501	Pelvic mass	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0031500	Abdominal mass	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0005217	Duplication of internal organs	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0003271	Visceromegaly	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0031607	Pelvic organ prolapse	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0033134	Abdominal adhesions	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0001541	Ascites	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0031501	Pelvic mass	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0031500	Abdominal mass	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0005217	Duplication of internal organs	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0003271	Visceromegaly	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0033134	Abdominal adhesions	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0031607	Pelvic organ prolapse	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0001541	Ascites	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0031501	Pelvic mass	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0031500	Abdominal mass	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0005217	Duplication of internal organs	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0003271	Visceromegaly	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0033134	Abdominal adhesions	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0031607	Pelvic organ prolapse	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0031607	Pelvic organ prolapse	1	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0033134	Abdominal adhesions	1	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0001541	Ascites	1	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0031501	Pelvic mass	1	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0031500	Abdominal mass	1	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0005217	Duplication of internal organs	1	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0003271	Visceromegaly	1	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0031607	Pelvic organ prolapse	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0033134	Abdominal adhesions	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0031501	Pelvic mass	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0001541	Ascites	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0005217	Duplication of internal organs	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0003271	Visceromegaly	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0031500	Abdominal mass	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0031607	Pelvic organ prolapse	1	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0033134	Abdominal adhesions	1	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0031501	Pelvic mass	1	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0001541	Ascites	1	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0005217	Duplication of internal organs	1	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0003271	Visceromegaly	1	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0031500	Abdominal mass	1	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0031501	Pelvic mass	1	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0001541	Ascites	1	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0003271	Visceromegaly	1	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0031500	Abdominal mass	1	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0005217	Duplication of internal organs	1	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0031607	Pelvic organ prolapse	1	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0033134	Abdominal adhesions	1	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0031607	Pelvic organ prolapse	1	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0033134	Abdominal adhesions	1	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0001541	Ascites	1	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0031501	Pelvic mass	1	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0003271	Visceromegaly	1	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0031500	Abdominal mass	1	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0005217	Duplication of internal organs	1	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0033134	Abdominal adhesions	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0031607	Pelvic organ prolapse	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0001541	Ascites	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0031501	Pelvic mass	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0031500	Abdominal mass	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0005217	Duplication of internal organs	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0003271	Visceromegaly	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0001541	Ascites	1	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0031501	Pelvic mass	1	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0003271	Visceromegaly	1	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0031500	Abdominal mass	1	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0005217	Duplication of internal organs	1	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0031607	Pelvic organ prolapse	1	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0033134	Abdominal adhesions	1	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0033134	Abdominal adhesions	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0031607	Pelvic organ prolapse	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0001541	Ascites	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0031501	Pelvic mass	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0031500	Abdominal mass	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0005217	Duplication of internal organs	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0003271	Visceromegaly	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0001541	Ascites	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0031501	Pelvic mass	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0031500	Abdominal mass	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0005217	Duplication of internal organs	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0003271	Visceromegaly	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0031607	Pelvic organ prolapse	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0033134	Abdominal adhesions	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0031607	Pelvic organ prolapse	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0033134	Abdominal adhesions	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0001541	Ascites	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0031501	Pelvic mass	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0005217	Duplication of internal organs	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0003271	Visceromegaly	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0031500	Abdominal mass	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0031501	Pelvic mass	1	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0001541	Ascites	1	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0005217	Duplication of internal organs	1	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0003271	Visceromegaly	1	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0031500	Abdominal mass	1	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0031607	Pelvic organ prolapse	1	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0033134	Abdominal adhesions	1	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0031607	Pelvic organ prolapse	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0033134	Abdominal adhesions	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0031501	Pelvic mass	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0001541	Ascites	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0005217	Duplication of internal organs	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0003271	Visceromegaly	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0031500	Abdominal mass	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0001541	Ascites	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0031501	Pelvic mass	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0005217	Duplication of internal organs	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0003271	Visceromegaly	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0031500	Abdominal mass	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0031607	Pelvic organ prolapse	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0033134	Abdominal adhesions	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0031501	Pelvic mass	1	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0001541	Ascites	1	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0005217	Duplication of internal organs	1	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0003271	Visceromegaly	1	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0031500	Abdominal mass	1	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0025181	Abdominal aseptic abscess	1	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0031607	Pelvic organ prolapse	1	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0033134	Abdominal adhesions	1	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0100645	Cystocele	2	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0001433	Hepatosplenomegaly	2	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0031780	Eosinophilic ascites	2	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0001791	Fetal ascites	2	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0012281	Chylous ascites	2	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0002240	Hepatomegaly	2	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0001744	Splenomegaly	2	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0002240	Hepatomegaly	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0001744	Splenomegaly	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0031780	Eosinophilic ascites	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0100645	Cystocele	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0001433	Hepatosplenomegaly	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0012281	Chylous ascites	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0001791	Fetal ascites	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0002240	Hepatomegaly	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0001744	Splenomegaly	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0031780	Eosinophilic ascites	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0100645	Cystocele	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0001433	Hepatosplenomegaly	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0012281	Chylous ascites	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0001791	Fetal ascites	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0002240	Hepatomegaly	2	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0001744	Splenomegaly	2	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0031780	Eosinophilic ascites	2	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0100645	Cystocele	2	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0001433	Hepatosplenomegaly	2	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0012281	Chylous ascites	2	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0001791	Fetal ascites	2	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0031780	Eosinophilic ascites	2	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0100645	Cystocele	2	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0001433	Hepatosplenomegaly	2	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0012281	Chylous ascites	2	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0001791	Fetal ascites	2	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0002240	Hepatomegaly	2	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0001744	Splenomegaly	2	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0031780	Eosinophilic ascites	2	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0100645	Cystocele	2	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0001433	Hepatosplenomegaly	2	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0001791	Fetal ascites	2	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0012281	Chylous ascites	2	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0002240	Hepatomegaly	2	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0001744	Splenomegaly	2	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0100645	Cystocele	2	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0001433	Hepatosplenomegaly	2	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0031780	Eosinophilic ascites	2	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0001791	Fetal ascites	2	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0012281	Chylous ascites	2	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0002240	Hepatomegaly	2	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0001744	Splenomegaly	2	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0002240	Hepatomegaly	2	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0001744	Splenomegaly	2	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0100645	Cystocele	2	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0001433	Hepatosplenomegaly	2	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0031780	Eosinophilic ascites	2	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0001791	Fetal ascites	2	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0012281	Chylous ascites	2	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0100645	Cystocele	2	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0001433	Hepatosplenomegaly	2	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0031780	Eosinophilic ascites	2	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0001791	Fetal ascites	2	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0012281	Chylous ascites	2	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0002240	Hepatomegaly	2	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0001744	Splenomegaly	2	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0031780	Eosinophilic ascites	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0100645	Cystocele	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0001433	Hepatosplenomegaly	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0012281	Chylous ascites	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0001791	Fetal ascites	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0002240	Hepatomegaly	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0001744	Splenomegaly	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0002240	Hepatomegaly	2	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0001744	Splenomegaly	2	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0100645	Cystocele	2	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0001433	Hepatosplenomegaly	2	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0031780	Eosinophilic ascites	2	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0001791	Fetal ascites	2	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0012281	Chylous ascites	2	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0031780	Eosinophilic ascites	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0100645	Cystocele	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0001433	Hepatosplenomegaly	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0012281	Chylous ascites	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0001791	Fetal ascites	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0002240	Hepatomegaly	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0001744	Splenomegaly	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0002240	Hepatomegaly	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0001744	Splenomegaly	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0031780	Eosinophilic ascites	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0100645	Cystocele	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0001433	Hepatosplenomegaly	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0012281	Chylous ascites	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0001791	Fetal ascites	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0031780	Eosinophilic ascites	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0100645	Cystocele	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0001433	Hepatosplenomegaly	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0012281	Chylous ascites	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0001791	Fetal ascites	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0002240	Hepatomegaly	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0001744	Splenomegaly	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0002240	Hepatomegaly	2	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0001744	Splenomegaly	2	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0100645	Cystocele	2	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0001433	Hepatosplenomegaly	2	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0031780	Eosinophilic ascites	2	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0001791	Fetal ascites	2	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0012281	Chylous ascites	2	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0031780	Eosinophilic ascites	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0100645	Cystocele	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0001433	Hepatosplenomegaly	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0012281	Chylous ascites	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0001791	Fetal ascites	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0002240	Hepatomegaly	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0001744	Splenomegaly	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0002240	Hepatomegaly	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0001744	Splenomegaly	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0031780	Eosinophilic ascites	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0100645	Cystocele	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0001433	Hepatosplenomegaly	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0012281	Chylous ascites	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0001791	Fetal ascites	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0002240	Hepatomegaly	2	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0001744	Splenomegaly	2	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0031780	Eosinophilic ascites	2	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0100645	Cystocele	2	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0001433	Hepatosplenomegaly	2	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0012281	Chylous ascites	2	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0001791	Fetal ascites	2	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	527	14637	607800
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	601	4620	137350
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	IFNGR1 CL E G H	3459	209950	Disseminated atypical mycobacterial infection	209950	C0694566	OMIM	1	311	5439	107470
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	MLH1 CL E G H	4292	276300	Turcot syndrome	276300	C0265325	OMIM	1	5122	7127	120436
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	MSH2 CL E G H	4436	276300	Turcot syndrome	276300	C0265325	OMIM	1	6856	7325	609309
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	MSH6 CL E G H	2956	276300	Turcot syndrome	276300	C0265325	OMIM	1	8438	7329	600678
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	PMS2 CL E G H	5395	276300	Turcot syndrome	276300	C0265325	OMIM	1	4719	9122	600259
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	512	9208	124015
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001438	HP:0006268	Fluctuating splenomegaly	3	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HP:0001438	HP:0006564	Fluctuating hepatomegaly	3	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	927	19750	609332
HPO disease - gene - phenotype less frequent non-typical associations: