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:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Grandparent Node:
Decreased head circumference (HP:0040195)

Parent Node:
Microcephaly (HP:0000252)

..Starting node
..Progressive microcephaly (HP:0000253)

Term ID:

253

Name:

Progressive microcephaly

Synonym:

Microcephaly, postnatal, progressive; Microcephaly, progressive; Progressively abnormally small cranium; Progressively abnormally small skull

Definition:

Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.

Comments:

Reference:

HP:0000253

Genes and Diseases:

Child Nodes:

Sister Nodes:

Primary microcephaly (HP:0011451)

Secondary microcephaly (HP:0005484)

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:0000253	HP:0000253	Progressive microcephaly	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000253	HP:0000253	Progressive microcephaly	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0000253	HP:0000253	Progressive microcephaly	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0000253	HP:0000253	Progressive microcephaly	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent	58
HP:0000253	HP:0000253	Progressive microcephaly	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0000253	HP:0000253	Progressive microcephaly	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0000253	HP:0000253	Progressive microcephaly	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent	93
HP:0000253	HP:0000253	Progressive microcephaly	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0000253	HP:0000253	Progressive microcephaly	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0000253	HP:0000253	Progressive microcephaly	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0000253	HP:0000253	Progressive microcephaly	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0000253	HP:0000253	Progressive microcephaly	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000253	HP:0000253	Progressive microcephaly	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000253	HP:0000253	Progressive microcephaly	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0000253	HP:0000253	Progressive microcephaly	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0000253	HP:0000253	Progressive microcephaly	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0000253	HP:0000253	Progressive microcephaly	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0000253	HP:0000253	Progressive microcephaly	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0000253	HP:0000253	Progressive microcephaly	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0000253	HP:0000253	Progressive microcephaly	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000253	HP:0000253	Progressive microcephaly	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000253	HP:0000253	Progressive microcephaly	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0000253	HP:0000253	Progressive microcephaly	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0000253	HP:0000253	Progressive microcephaly	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000253	HP:0000253	Progressive microcephaly	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0000253	HP:0000253	Progressive microcephaly	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000253	HP:0000253	Progressive microcephaly	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0000253	HP:0000253	Progressive microcephaly	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000253	HP:0000253	Progressive microcephaly	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0000253	HP:0000253	Progressive microcephaly	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0000253	HP:0000253	Progressive microcephaly	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0000253	HP:0000253	Progressive microcephaly	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000253	HP:0000253	Progressive microcephaly	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent	5
HP:0000253	HP:0000253	Progressive microcephaly	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0000253	HP:0000253	Progressive microcephaly	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0000253	HP:0000253	Progressive microcephaly	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0000253	HP:0000253	Progressive microcephaly	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0000253	HP:0000253	Progressive microcephaly	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0000253	HP:0000253	Progressive microcephaly	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000253	HP:0000253	Progressive microcephaly	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional	3
HP:0000253	HP:0000253	Progressive microcephaly	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent	7
HP:0000253	HP:0000253	Progressive microcephaly	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000253	HP:0000253	Progressive microcephaly	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0000253	HP:0000253	Progressive microcephaly	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000253	HP:0000253	Progressive microcephaly	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0000253	HP:0000253	Progressive microcephaly	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040282 - Frequent	119
HP:0000253	HP:0000253	Progressive microcephaly	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0000253	HP:0000253	Progressive microcephaly	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000253	HP:0000253	Progressive microcephaly	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000253	HP:0000253	Progressive microcephaly	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0000253	HP:0000253	Progressive microcephaly	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent	950
HP:0000253	HP:0000253	Progressive microcephaly	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0000253	HP:0000253	Progressive microcephaly	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0000253	HP:0000253	Progressive microcephaly	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040282 - Frequent	39
HP:0000253	HP:0000253	Progressive microcephaly	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional	6
HP:0000253	HP:0000253	Progressive microcephaly	0	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0000253	HP:0000253	Progressive microcephaly	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	HP:0040284 - Very rare	81
HP:0000253	HP:0000253	Progressive microcephaly	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0000253	HP:0000253	Progressive microcephaly	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0000253	HP:0000253	Progressive microcephaly	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000253	HP:0000253	Progressive microcephaly	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000253	HP:0000253	Progressive microcephaly	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0000253	HP:0000253	Progressive microcephaly	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.	92
HP:0000253	HP:0000253	Progressive microcephaly	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0000253	HP:0000253	Progressive microcephaly	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	172
HP:0000253	HP:0000253	Progressive microcephaly	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0000253	HP:0000253	Progressive microcephaly	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent	1
HP:0000253	HP:0000253	Progressive microcephaly	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000253	HP:0000253	Progressive microcephaly	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent	11
HP:0000253	HP:0000253	Progressive microcephaly	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000253	HP:0000253	Progressive microcephaly	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0000253	HP:0000253	Progressive microcephaly	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0000253	HP:0000253	Progressive microcephaly	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0000253	HP:0000253	Progressive microcephaly	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0000253	HP:0000253	Progressive microcephaly	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.	357
HP:0000253	HP:0000253	Progressive microcephaly	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	66
HP:0000253	HP:0000253	Progressive microcephaly	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0000253	HP:0000253	Progressive microcephaly	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0000253	HP:0000253	Progressive microcephaly	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0000253	HP:0000253	Progressive microcephaly	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.	166
HP:0000253	HP:0000253	Progressive microcephaly	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0000253	HP:0000253	Progressive microcephaly	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040281 - Very frequent	255
HP:0000253	HP:0000253	Progressive microcephaly	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0000253	HP:0000253	Progressive microcephaly	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000253	HP:0000253	Progressive microcephaly	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0000253	HP:0000253	Progressive microcephaly	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	HP:0040282 - Frequent	416
HP:0000253	HP:0000253	Progressive microcephaly	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0000253	HP:0000253	Progressive microcephaly	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0000253	HP:0000253	Progressive microcephaly	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0000253	HP:0000253	Progressive microcephaly	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0000253	HP:0000253	Progressive microcephaly	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	3
HP:0000253	HP:0000253	Progressive microcephaly	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	.	3
HP:0000253	HP:0000253	Progressive microcephaly	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	84
HP:0000253	HP:0000253	Progressive microcephaly	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0000253	HP:0000253	Progressive microcephaly	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	57
HP:0000253	HP:0000253	Progressive microcephaly	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	102
HP:0000253	HP:0000253	Progressive microcephaly	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0000253	HP:0000253	Progressive microcephaly	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000253	HP:0000253	Progressive microcephaly	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000253	HP:0000253	Progressive microcephaly	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000253	HP:0000253	Progressive microcephaly	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0000253	HP:0000253	Progressive microcephaly	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.	149
HP:0000253	HP:0000253	Progressive microcephaly	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0000253	HP:0000253	Progressive microcephaly	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (92) :ACBD5 ACO2 AGTPBP1 ALG1 ALG12 ALG9 AMPD2 ARFGEF2 ASNS ATP6V0A2 ATP6V1A ATP6V1E1 BRAT1 CASK CC2D1A CCDC88A CDC42 CDC45 CDKL5 CLP1 CNP COG1 COG7 COG8 DOLK DPM2 EFTUD2 EMC1 ERCC6 ERCC8 EXOSC3 EXOSC8 EXOSC9 EXTL3 FAR1 FOXG1 GLYCTK GOT2 GRIA2 IQSEC2 LAMB2 LGI3 MDH1 MECP2 MED17 MFSD2A MGAT2 MPC1 NAPB NDUFS1 PAFAH1B1 PCDH12 PCLO PLAA PNKP PNPO POMK PPT1 PTRH2 PUS3 PYCR2 QARS1 RARS2 RNASEH2A RNASEH2C RNF113A SCN8A SEPSECS SLC1A4 SLC25A19 SLC25A22 SLC25A46 SLC2A1 SLC39A14 SMPD4 SNAP29 SPTAN1 STAMBP TOE1 TRAPPC6B TREX1 TSEN15 TSEN2 TSEN34 TSEN54 TUBGCP2 VARS1 VPS53 VRK1 WWOX ZNHIT3 ZSWIM6

Diseases (92) :OMIM:618863 OMIM:614559 ORPHA:2254 ORPHA:79327 ORPHA:79324 OMIM:607143 ORPHA:79328 OMIM:615809 OMIM:608097 OMIM:615574 ORPHA:357074 OMIM:278250 ORPHA:2834 OMIM:614498 OMIM:300749 OMIM:608443 OMIM:617507 OMIM:616737 OMIM:617063 OMIM:300672 OMIM:615803 OMIM:619071 ORPHA:263508 OMIM:611209 ORPHA:79333 OMIM:608779 ORPHA:95428 ORPHA:91131 ORPHA:329178 OMIM:610536 ORPHA:480898 ORPHA:90324 OMIM:614678 OMIM:617425 ORPHA:438178 OMIM:613454 ORPHA:941 OMIM:618721 OMIM:618917 ORPHA:397933 OMIM:609049 OMIM:620007 OMIM:618959 OMIM:300673 ORPHA:778 OMIM:613668 OMIM:616486 ORPHA:79329 OMIM:614741 OMIM:620033 OMIM:618226 ORPHA:95232 OMIM:251280 OMIM:608027 OMIM:617527 OMIM:613402 OMIM:610090 OMIM:615249 OMIM:256730 OMIM:616263 ORPHA:488627 OMIM:616420 ORPHA:481152 OMIM:615760 OMIM:611523 OMIM:610333 OMIM:610329 OMIM:300953 OMIM:614558 ORPHA:2524 OMIM:613811 OMIM:616657 OMIM:607196 OMIM:609304 ORPHA:71277 ORPHA:521406 OMIM:618622 OMIM:609528 OMIM:613477 OMIM:614261 OMIM:614969 OMIM:617862 OMIM:225750 OMIM:617026 OMIM:612389 OMIM:277470 OMIM:618737 OMIM:617802 OMIM:615851 OMIM:616211 OMIM:260565 OMIM:617865

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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