Human Phenotype Ontology

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

Grandparent Node:
Abnormal lung morphology (HP:0002088)

Parent Node:
Aplasia/Hypoplasia of the lungs (HP:0006703)

..Starting node
..Pulmonary hypoplasia (HP:0002089)

Term ID:

2089

Name:

Pulmonary hypoplasia

Synonym:

Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung

Definition:

Comments:

Reference:

HP:0002089

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral lung agenesis (HP:0005944)

Unilateral lung agenesis (HP:0030707)

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

Genes (129) :AARS2 ACE ACTA1 ADGRG6 AGT AGTR1 ALDH1A2 ALG3 ALG9 ASCC1 ATP5F1A B3GALT6 BCOR BMPER CC2D2A CDC45 CEP120 CEP55 CHRNA1 CHRND CHRNG COL2A1 COQ7 CSPP1 DHCR7 DLK1 DOK7 DONSON DPAGT1 DYNC2H1 DYNC2I1 DYNC2I2 DZIP1L ETFA ETFB ETFDH FAM20C FANCB FGF20 FGFR3 FLNA FLNB FRAS1 FREM2 FUZ GATA6 GBA1 GFRA1 GLDN GLE1 GREB1L GRIP1 HSPG2 IFT80 IFT81 INTU INVS ITGA8 KAT6B KIAA0586 KLHL40 KLHL41 LBR LGI4 LIFR LMNA LMOD3 LONP1 LTBP4 MCTP2 MEG3 MKKS MKS1 MUSK MYH11 MYH3 MYOD1 MYRF NAA10 NDUFB10 NEB NEK1 NEK8 NEK9 NKX2-6 NPHP3 NSDHL NUP88 PEX1 PHGDH PI4KA PIEZO2 PIGN PKHD1 PLXND1 PRRX1 PTH1R RAPSN RARB RBM10 REN RET RLIM RTL1 RYR1 SETBP1 SF3B2 SLC18A3 SLC25A24 SLC26A2 SMO SPECC1L STRA6 TAPT1 TCTN3 TMEM94 TRIP11 TRIP4 TUBA1A TXNDC15 VANGL1 WDR35 WNT3 WNT4 WNT9B WT1 ZFPM2 ZIC3 ZMPSTE24

Diseases (119) :OMIM:614096 OMIM:267430 ORPHA:171430 OMIM:616503 OMIM:620025 ORPHA:79321 ORPHA:79328 OMIM:263210 OMIM:616867 OMIM:615228 ORPHA:536467 OMIM:309800 OMIM:608022 OMIM:612284 OMIM:617063 OMIM:616300 OMIM:236500 OMIM:253290 ORPHA:2990 OMIM:265000 ORPHA:93296 ORPHA:85166 OMIM:151210 OMIM:616733 OMIM:615636 OMIM:270400 ORPHA:818 ORPHA:96334 ORPHA:994 OMIM:251230 ORPHA:86309 ORPHA:93271 OMIM:615503 ORPHA:731 OMIM:231680 OMIM:259775 OMIM:314390 ORPHA:3412 ORPHA:1848 OMIM:615721 OMIM:100800 OMIM:187600 ORPHA:90652 ORPHA:1190 OMIM:219000 ORPHA:2052 ORPHA:3027 ORPHA:2140 OMIM:608013 OMIM:619887 OMIM:617194 OMIM:253310 ORPHA:1486 OMIM:224410 ORPHA:1865 OMIM:617895 OMIM:617925 OMIM:602088 OMIM:191830 ORPHA:85201 OMIM:606170 OMIM:616546 OMIM:215140 OMIM:617468 OMIM:601559 ORPHA:1662 OMIM:613177 ORPHA:1596 OMIM:236700 OMIM:249000 OMIM:208150 OMIM:619351 OMIM:618975 OMIM:618280 OMIM:300855 OMIM:619003 OMIM:263520 OMIM:615415 OMIM:617022 ORPHA:3384 ORPHA:3032 OMIM:208540 OMIM:308050 OMIM:214100 OMIM:256520 OMIM:619708 OMIM:616531 OMIM:248700 ORPHA:2059 OMIM:614080 OMIM:263200 OMIM:202650 ORPHA:50945 ORPHA:2470 OMIM:615524 ORPHA:2886 OMIM:300978 OMIM:255320 ORPHA:798 OMIM:164210 OMIM:612289 ORPHA:56304 OMIM:256050 OMIM:241800 OMIM:145420 OMIM:601186 OMIM:616897 ORPHA:2753 OMIM:618316 OMIM:200600 OMIM:184260 OMIM:616866 OMIM:619879 OMIM:614091 OMIM:273395 OMIM:611812 ORPHA:139466 OMIM:608978 OMIM:275210

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

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