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:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	7
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	304
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	7
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent	145
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent	233
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia		37
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral		1
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11		6
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1		45
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040281 - Very frequent
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040281 - Very frequent	25
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	148
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	48
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	65
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral		4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia		8
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia		58
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12		9
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral		572
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	132
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	95
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent	12
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040281 - Very frequent	177
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia		31
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0006703	HP:0006703	Aplasia/Hypoplasia of the lungs	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0006703	HP:0033209	Acinar dysplasia	1	CL E G H
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.	143
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	HP:0040283 - Occasional	101
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	.	247
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent	284
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	HP:0040283 - Occasional	57
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2	.	2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent	233
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	3
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	37
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	1
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11	.	6
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.	45
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040281 - Very frequent	45
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	4
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional	141
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	HP:0040283 - Occasional	6
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	8
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	HP:0040283 - Occasional	23
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent	157
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040283 - Occasional	37
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040282 - Frequent	9
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.	9
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare	16
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	572
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	HP:0040284 - Very rare	7
HP:0006703	HP:0005944	Bilateral lung agenesis	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0006703	HP:0030707	Unilateral lung agenesis	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0006703	HP:0030707	Unilateral lung agenesis	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040282 - Frequent	71
HP:0006703	HP:0005944	Bilateral lung agenesis	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.	2
HP:0006703	HP:0005944	Bilateral lung agenesis	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	111
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0006703	HP:0005944	Bilateral lung agenesis	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	HP:0040281 - Very frequent	4
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040280 - Obligate	4
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0006703	HP:0033210	Congenital alveolar dysplasia	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	31
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0006703	HP:0002089	Pulmonary hypoplasia	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83