Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormality of the mandible (HP:0000277)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the skull (HP:0009116)

Parent Node:
Aplasia/Hypoplasia of the mandible (HP:0009118)

..Starting node
..Micrognathia (HP:0000347)

Term ID:

347

Name:

Micrognathia

Synonym:

Decreased projection of lower jaw; Decreased projection of mandible; Decreased size of lower jaw; Decreased size of mandible; Deficiency of lower jaw; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Lower jaw retrusion; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; Micrognathia of lower jaw; Micromandible; Retrusion of lower jaw; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible

Definition:

Developmental hypoplasia of the mandible.

Comments:

Reference:

HP:0000347

Genes and Diseases:

Child Nodes:

........

Microretrognathia (HP:0000308)

........

Short mandibular rami (HP:0003778)

................... HP:0005790 Short mandibular condyles

Sister Nodes:

Mandibular aplasia (HP:0009939)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000347	HP:0000347	Micrognathia	0	A2ML1 CL E G H	144568	648				ORPHA	1	1146	23336	610627
HP:0000347	HP:0000347	Micrognathia	0	ABCC9 CL E G H	10060	965	Brachydactyly dwarfism mental retardation			ORPHA	1	1266	60	601439
HP:0000347	HP:0000347	Micrognathia	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	406	132	102630
HP:0000347	HP:0000347	Micrognathia	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	412	144	102560
HP:0000347	HP:0000347	Micrognathia	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000347	HP:0000347	Micrognathia	0	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	1221	218	604539
HP:0000347	HP:0000347	Micrognathia	0	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	96	13841	612243
HP:0000347	HP:0000347	Micrognathia	0	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000347	HP:0000347	Micrognathia	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	455	25230	615790
HP:0000347	HP:0000347	Micrognathia	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0000347	HP:0000347	Micrognathia	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	495	18294	605907
HP:0000347	HP:0000347	Micrognathia	0	ALX4 CL E G H	60529	52022				ORPHA	1	251	450	605420
HP:0000347	HP:0000347	Micrognathia	0	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	293	26837	300647
HP:0000347	HP:0000347	Micrognathia	0	AMMECR1 CL E G H	9949	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	300990	C4310810	OMIM	1	197	467	300195
HP:0000347	HP:0000347	Micrognathia	0	ANK1 CL E G H	286	251066				ORPHA	1	642	492	612641
HP:0000347	HP:0000347	Micrognathia	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	191	29101	616062
HP:0000347	HP:0000347	Micrognathia	0	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	1	1515	21316	611192
HP:0000347	HP:0000347	Micrognathia	0	ANTXR1 CL E G H	84168	2067				ORPHA	1	90	21014	606410
HP:0000347	HP:0000347	Micrognathia	0	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	90	21014	606410
HP:0000347	HP:0000347	Micrognathia	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000347	HP:0000347	Micrognathia	0	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	679	18060	300382
HP:0000347	HP:0000347	Micrognathia	0	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0000347	HP:0000347	Micrognathia	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	503	18318	612990
HP:0000347	HP:0000347	Micrognathia	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0000347	HP:0000347	Micrognathia	0	ATP7A CL E G H	538	565				ORPHA	1	1283	869	300011
HP:0000347	HP:0000347	Micrognathia	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	2273	882	601215
HP:0000347	HP:0000347	Micrognathia	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	2273	882	601215
HP:0000347	HP:0000347	Micrognathia	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	374	33499	606605
HP:0000347	HP:0000347	Micrognathia	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1544	886	300032
HP:0000347	HP:0000347	Micrognathia	0	AXIN2 CL E G H	8313	99798				ORPHA	1	2777	904	604025
HP:0000347	HP:0000347	Micrognathia	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000347	HP:0000347	Micrognathia	0	B3GLCT CL E G H	145173	709				ORPHA	1	266	20207	610308
HP:0000347	HP:0000347	Micrognathia	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	266	20207	610308
HP:0000347	HP:0000347	Micrognathia	0	B9D1 CL E G H	27077	564				ORPHA	1	253	24123	614144
HP:0000347	HP:0000347	Micrognathia	0	B9D2 CL E G H	80776	564				ORPHA	1	56	28636	611951
HP:0000347	HP:0000347	Micrognathia	0	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000347	HP:0000347	Micrognathia	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	196	961	605681
HP:0000347	HP:0000347	Micrognathia	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	330	13222	606558
HP:0000347	HP:0000347	Micrognathia	0	BDNF CL E G H	627	893				ORPHA	1	57	1033	113505
HP:0000347	HP:0000347	Micrognathia	0	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	590	17208	609797
HP:0000347	HP:0000347	Micrognathia	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0000347	HP:0000347	Micrognathia	0	BPTF CL E G H	2186	529962				ORPHA	1	191	3581	601819
HP:0000347	HP:0000347	Micrognathia	0	BRAF CL E G H	673	648				ORPHA	1	948	1097	164757
HP:0000347	HP:0000347	Micrognathia	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	948	1097	164757
HP:0000347	HP:0000347	Micrognathia	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	948	1097	164757
HP:0000347	HP:0000347	Micrognathia	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	789	1148	602452
HP:0000347	HP:0000347	Micrognathia	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1250	1149	602860
HP:0000347	HP:0000347	Micrognathia	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	1250	1149	602860
HP:0000347	HP:0000347	Micrognathia	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	299	1151	603719
HP:0000347	HP:0000347	Micrognathia	0	C12orf57 CL E G H	113246	1777				ORPHA	1	248	29521	615140
HP:0000347	HP:0000347	Micrognathia	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	248	29521	615140
HP:0000347	HP:0000347	Micrognathia	0	CASK CL E G H	8573	163937				ORPHA	1	706	1497	300172
HP:0000347	HP:0000347	Micrognathia	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	706	1497	300172
HP:0000347	HP:0000347	Micrognathia	0	CC2D2A CL E G H	57545	564				ORPHA	1	1176	29253	612013
HP:0000347	HP:0000347	Micrognathia	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	72	16892	606037
HP:0000347	HP:0000347	Micrognathia	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	72	16892	606037
HP:0000347	HP:0000347	Micrognathia	0	CDC45 CL E G H	8318	2554				ORPHA	1	567	1739	603465
HP:0000347	HP:0000347	Micrognathia	0	CDC6 CL E G H	990	2554				ORPHA	1	104	1744	602627
HP:0000347	HP:0000347	Micrognathia	0	CDC6 CL E G H	990	613805	Meier-Gorlin syndrome 5	613805	C3151126	OMIM	1	104	1744	602627
HP:0000347	HP:0000347	Micrognathia	0	CDCA7 CL E G H	83879	2268				ORPHA	1	145	14628	609937
HP:0000347	HP:0000347	Micrognathia	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	88	1774	123831
HP:0000347	HP:0000347	Micrognathia	0	CDT1 CL E G H	81620	2554				ORPHA	1	326	24576	605525
HP:0000347	HP:0000347	Micrognathia	0	CDT1 CL E G H	81620	613804	Meier-Gorlin syndrome 4	613804	C3151120	OMIM	1	326	24576	605525
HP:0000347	HP:0000347	Micrognathia	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	272	1856	117143
HP:0000347	HP:0000347	Micrognathia	0	CENPE CL E G H	1062	616051	Primary autosomal recessive microcephaly 13	616051	C4015080	OMIM	1	272	1856	117143
HP:0000347	HP:0000347	Micrognathia	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	438	17272	609279
HP:0000347	HP:0000347	Micrognathia	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	450	29298	613529
HP:0000347	HP:0000347	Micrognathia	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	450	29298	613529
HP:0000347	HP:0000347	Micrognathia	0	CEP290 CL E G H	80184	564				ORPHA	1	2251	29021	610142
HP:0000347	HP:0000347	Micrognathia	0	CEP55 CL E G H	55165	564				ORPHA	1	57	1161	610000
HP:0000347	HP:0000347	Micrognathia	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	311	30794	607951
HP:0000347	HP:0000347	Micrognathia	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2318	20626	608892
HP:0000347	HP:0000347	Micrognathia	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	398	1955	100690
HP:0000347	HP:0000347	Micrognathia	0	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0000347	HP:0000347	Micrognathia	0	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0000347	HP:0000347	Micrognathia	0	CHRNG CL E G H	1146	2990				ORPHA	1	220	1967	100730
HP:0000347	HP:0000347	Micrognathia	0	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0000347	HP:0000347	Micrognathia	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	220	1967	100730
HP:0000347	HP:0000347	Micrognathia	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	181	2586	603432
HP:0000347	HP:0000347	Micrognathia	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0000347	HP:0000347	Micrognathia	0	COASY CL E G H	80347	618266	618266	618266		OMIM	1	175	29932	609855
HP:0000347	HP:0000347	Micrognathia	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0000347	HP:0000347	Micrognathia	0	COG4 CL E G H	25839	618150	SAUL-WILSON SYNDROME	618150		OMIM	1	262	18620	606976
HP:0000347	HP:0000347	Micrognathia	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0000347	HP:0000347	Micrognathia	0	COL10A1 CL E G H	1300	174	Macrogyria, pseudobulbar palsy and mental retardation			ORPHA	1	295	2185	120110
HP:0000347	HP:0000347	Micrognathia	0	COL11A1 CL E G H	1301	560				ORPHA	1	1671	2186	120280
HP:0000347	HP:0000347	Micrognathia	0	COL11A1 CL E G H	1301	250984				ORPHA	1	1671	2186	120280
HP:0000347	HP:0000347	Micrognathia	0	COL11A1 CL E G H	1301	440354				ORPHA	1	1671	2186	120280
HP:0000347	HP:0000347	Micrognathia	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	1671	2186	120280
HP:0000347	HP:0000347	Micrognathia	0	COL11A1 CL E G H	1301	604841	Stickler syndrome, type 2	604841	C1858084	OMIM	1	1671	2186	120280
HP:0000347	HP:0000347	Micrognathia	0	COL11A2 CL E G H	1302	166100				ORPHA	1	1240	2187	120290
HP:0000347	HP:0000347	Micrognathia	0	COL11A2 CL E G H	1302	614524	Fibrochondrogenesis 2	614524	C3281128	OMIM	1	1240	2187	120290
HP:0000347	HP:0000347	Micrognathia	0	COL11A2 CL E G H	1302	3450	Mehta Lewis Patton syndrome			ORPHA	1	1240	2187	120290
HP:0000347	HP:0000347	Micrognathia	0	COL11A2 CL E G H	1302	215150	Otospondylomegaepiphyseal dysplasia	215150	C0432210	OMIM	1	1240	2187	120290
HP:0000347	HP:0000347	Micrognathia	0	COL12A1 CL E G H	1303	75840				ORPHA	1	1944	2188	120320
HP:0000347	HP:0000347	Micrognathia	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0000347	HP:0000347	Micrognathia	0	COL1A1 CL E G H	1277	1899				ORPHA	1	2016	2197	120150
HP:0000347	HP:0000347	Micrognathia	0	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	2016	2197	120150
HP:0000347	HP:0000347	Micrognathia	0	COL1A2 CL E G H	1278	1899				ORPHA	1	1458	2198	120160
HP:0000347	HP:0000347	Micrognathia	0	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1458	2198	120160
HP:0000347	HP:0000347	Micrognathia	0	COL2A1 CL E G H	1280	93296				ORPHA	1	1820	2200	120140
HP:0000347	HP:0000347	Micrognathia	0	COL2A1 CL E G H	1280	3450	Mehta Lewis Patton syndrome			ORPHA	1	1820	2200	120140
HP:0000347	HP:0000347	Micrognathia	0	COL3A1 CL E G H	1281	2500	Glucocorticoid sensitive hypertension			ORPHA	1	2274	2201	120180
HP:0000347	HP:0000347	Micrognathia	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1470	2211	120220
HP:0000347	HP:0000347	Micrognathia	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1644	2212	120240
HP:0000347	HP:0000347	Micrognathia	0	COL6A3 CL E G H	1293	75840				ORPHA	1	2414	2213	120250
HP:0000347	HP:0000347	Micrognathia	0	COL9A1 CL E G H	1297	250984				ORPHA	1	892	2217	120210
HP:0000347	HP:0000347	Micrognathia	0	COL9A2 CL E G H	1298	250984				ORPHA	1	604	2218	120260
HP:0000347	HP:0000347	Micrognathia	0	COL9A3 CL E G H	1299	250984				ORPHA	1	907	2219	120270
HP:0000347	HP:0000347	Micrognathia	0	COX7B CL E G H	1349	2556				ORPHA	1	173	2291	300885
HP:0000347	HP:0000347	Micrognathia	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	1426	25801	614571
HP:0000347	HP:0000347	Micrognathia	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1426	25801	614571
HP:0000347	HP:0000347	Micrognathia	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0000347	HP:0000347	Micrognathia	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0000347	HP:0000347	Micrognathia	0	CRLF1 CL E G H	9244	272430	Cold-induced sweating syndrome 1	272430	C1848947	OMIM	1	80	2364	604237
HP:0000347	HP:0000347	Micrognathia	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	196	2457	115440
HP:0000347	HP:0000347	Micrognathia	0	CSPP1 CL E G H	79848	564				ORPHA	1	793	26193	611654
HP:0000347	HP:0000347	Micrognathia	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0000347	HP:0000347	Micrognathia	0	CTDP1 CL E G H	9150	48431				ORPHA	1	383	2498	604927
HP:0000347	HP:0000347	Micrognathia	0	CTSK CL E G H	1513	265800	Pyknodysostosis	265800	C0238402	OMIM	1	235	2536	601105
HP:0000347	HP:0000347	Micrognathia	0	CTU2 CL E G H	348180	618142	MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME	618142		OMIM	1	173	28005	617057
HP:0000347	HP:0000347	Micrognathia	0	CWC27 CL E G H	10283	250410	Retinitis pigmentosa with or without skeletal anomalies	250410	C1855188	OMIM	1	244	10664	617170
HP:0000347	HP:0000347	Micrognathia	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	394	28358	609186
HP:0000347	HP:0000347	Micrognathia	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	636	13681	603057
HP:0000347	HP:0000347	Micrognathia	0	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	266	2731	191311
HP:0000347	HP:0000347	Micrognathia	0	DEAF1 CL E G H	10522	819				ORPHA	1	452	14677	602635
HP:0000347	HP:0000347	Micrognathia	0	DHCR24 CL E G H	1718	35107				ORPHA	1	216	2859	606418
HP:0000347	HP:0000347	Micrognathia	0	DHCR7 CL E G H	1717	818				ORPHA	1	648	2860	602858
HP:0000347	HP:0000347	Micrognathia	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	648	2860	602858
HP:0000347	HP:0000347	Micrognathia	0	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	161	2867	126064
HP:0000347	HP:0000347	Micrognathia	0	DHODH CL E G H	1723	246	Schisis association			ORPHA	1	161	2867	126064
HP:0000347	HP:0000347	Micrognathia	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	1714	28648	614184
HP:0000347	HP:0000347	Micrognathia	0	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0000347	HP:0000347	Micrognathia	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	331	2939	601810
HP:0000347	HP:0000347	Micrognathia	0	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	236	27030	617048
HP:0000347	HP:0000347	Micrognathia	0	DNMT3B CL E G H	1789	2268				ORPHA	1	463	2979	602900
HP:0000347	HP:0000347	Micrognathia	0	DNMT3B CL E G H	1789	242860	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	242860	C0398788	OMIM	1	463	2979	602900
HP:0000347	HP:0000347	Micrognathia	0	DOCK6 CL E G H	57572	614219	Adams-Oliver syndrome 2	614219	C3280182	OMIM	1	561	19189	614194
HP:0000347	HP:0000347	Micrognathia	0	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0000347	HP:0000347	Micrognathia	0	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	840	26594	610285
HP:0000347	HP:0000347	Micrognathia	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	258	2995	191350
HP:0000347	HP:0000347	Micrognathia	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	258	2995	191350
HP:0000347	HP:0000347	Micrognathia	0	DPH1 CL E G H	1801	616901	Developmental delay with short stature, dysmorphic features, and sparse hair	616901	C4310801	OMIM	1	106	3003	603527
HP:0000347	HP:0000347	Micrognathia	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	203	3005	603503
HP:0000347	HP:0000347	Micrognathia	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0000347	HP:0000347	Micrognathia	0	DSTYK CL E G H	25778	270750	Spastic paraplegia 23	270750	C0796019	OMIM	1	102	29043	612666
HP:0000347	HP:0000347	Micrognathia	0	DVL1 CL E G H	1855	3107				ORPHA	1	492	3084	601365
HP:0000347	HP:0000347	Micrognathia	0	DVL1 CL E G H	1855	180700	Robinow syndrome	180700	C0265205	OMIM	1	492	3084	601365
HP:0000347	HP:0000347	Micrognathia	0	DVL3 CL E G H	1857	3107				ORPHA	1	189	3087	601368
HP:0000347	HP:0000347	Micrognathia	0	DVL3 CL E G H	1857	180700	Robinow syndrome	180700	C0265205	OMIM	1	189	3087	601368
HP:0000347	HP:0000347	Micrognathia	0	DVL3 CL E G H	1857	616894	Robinow syndrome, autosomal dominant 3	616894	C4225164	OMIM	1	189	3087	601368
HP:0000347	HP:0000347	Micrognathia	0	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0000347	HP:0000347	Micrognathia	0	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0000347	HP:0000347	Micrognathia	0	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	170	3147	605896
HP:0000347	HP:0000347	Micrognathia	0	EDA CL E G H	1896	99798				ORPHA	1	529	3157	300451
HP:0000347	HP:0000347	Micrognathia	0	EDARADD CL E G H	128178	99798				ORPHA	1	202	14341	606603
HP:0000347	HP:0000347	Micrognathia	0	EDN1 CL E G H	1906	615706	Auriculocondylar syndrome 3	615706	C3810332	OMIM	1	52	3176	131240
HP:0000347	HP:0000347	Micrognathia	0	EDNRA CL E G H	1909	616367	Mandibulofacial dysostosis with alopecia	616367	C4225349	OMIM	1	79	3179	131243
HP:0000347	HP:0000347	Micrognathia	0	EED CL E G H	8726	3447				ORPHA	1	97	3188	605984
HP:0000347	HP:0000347	Micrognathia	0	EFEMP2 CL E G H	30008	614437	Autosomal recessive cutis laxa type 1B	614437	C3280798	OMIM	1	358	3219	604633
HP:0000347	HP:0000347	Micrognathia	0	EFTUD2 CL E G H	9343	79113				ORPHA	1	363	30858	603892
HP:0000347	HP:0000347	Micrognathia	0	EFTUD2 CL E G H	9343	610536	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	610536	C1864652	OMIM	1	363	30858	603892
HP:0000347	HP:0000347	Micrognathia	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	763	3327	130160
HP:0000347	HP:0000347	Micrognathia	0	EMG1 CL E G H	10436	1270				ORPHA	1	68	16912	611531
HP:0000347	HP:0000347	Micrognathia	0	EMG1 CL E G H	10436	211180	Bowen-Conradi syndrome	211180	C1859405	OMIM	1	68	16912	611531
HP:0000347	HP:0000347	Micrognathia	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0000347	HP:0000347	Micrognathia	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	835	3373	602700
HP:0000347	HP:0000347	Micrognathia	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1213	29331	615068
HP:0000347	HP:0000347	Micrognathia	0	ERBB3 CL E G H	2065	607598	Lethal congenital contracture syndrome 2	607598	C1843478	OMIM	1	97	3431	190151
HP:0000347	HP:0000347	Micrognathia	0	ERCC1 CL E G H	2067	1466				ORPHA	1	113	3433	126380
HP:0000347	HP:0000347	Micrognathia	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	113	3433	126380
HP:0000347	HP:0000347	Micrognathia	0	ERCC2 CL E G H	2068	1466				ORPHA	1	1196	3434	126340
HP:0000347	HP:0000347	Micrognathia	0	ERCC2 CL E G H	2068	610756	Cerebrooculofacioskeletal syndrome 2	610756	C1853102	OMIM	1	1196	3434	126340
HP:0000347	HP:0000347	Micrognathia	0	ERCC5 CL E G H	2073	1466				ORPHA	1	425	3437	133530
HP:0000347	HP:0000347	Micrognathia	0	ERCC5 CL E G H	2073	616570	Cerebrooculofacioskeletal syndrome 3	616570	C1851443	OMIM	1	425	3437	133530
HP:0000347	HP:0000347	Micrognathia	0	ERCC6 CL E G H	2074	1466				ORPHA	1	1170	3438	609413
HP:0000347	HP:0000347	Micrognathia	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000347	HP:0000347	Micrognathia	0	ERMARD CL E G H	55780	75857				ORPHA	1	238	21056	615532
HP:0000347	HP:0000347	Micrognathia	0	ESCO2 CL E G H	157570	3103				ORPHA	1	435	27230	609353
HP:0000347	HP:0000347	Micrognathia	0	ESCO2 CL E G H	157570	268300	Roberts-SC phocomelia syndrome	268300	C0392475	OMIM	1	435	27230	609353
HP:0000347	HP:0000347	Micrognathia	0	ESCO2 CL E G H	157570	269000	Roberts-SC phocomelia syndrome	269000	C0392475	OMIM	1	435	27230	609353
HP:0000347	HP:0000347	Micrognathia	0	EXT2 CL E G H	2132	52022				ORPHA	1	532	3513	608210
HP:0000347	HP:0000347	Micrognathia	0	EZH2 CL E G H	2146	3447				ORPHA	1	416	3527	601573
HP:0000347	HP:0000347	Micrognathia	0	FAM20C CL E G H	56975	1832	Diabetes hypogonadism deafness mental retardation			ORPHA	1	350	22140	611061
HP:0000347	HP:0000347	Micrognathia	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	350	22140	611061
HP:0000347	HP:0000347	Micrognathia	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	1312	23109	612411
HP:0000347	HP:0000347	Micrognathia	0	FBN1 CL E G H	2200	2462				ORPHA	1	5970	3603	134797
HP:0000347	HP:0000347	Micrognathia	0	FBN1 CL E G H	2200	284979				ORPHA	1	5970	3603	134797
HP:0000347	HP:0000347	Micrognathia	0	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	5970	3603	134797
HP:0000347	HP:0000347	Micrognathia	0	FGF3 CL E G H	2248	90024				ORPHA	1	80	3681	164950
HP:0000347	HP:0000347	Micrognathia	0	FGF3 CL E G H	2248	610706	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	610706	C1853144	OMIM	1	80	3681	164950
HP:0000347	HP:0000347	Micrognathia	0	FGFR1 CL E G H	2260	2645				ORPHA	1	688	3688	136350
HP:0000347	HP:0000347	Micrognathia	0	FGFR1 CL E G H	2260	99798				ORPHA	1	688	3688	136350
HP:0000347	HP:0000347	Micrognathia	0	FGFR2 CL E G H	2263	313855				ORPHA	1	567	3689	176943
HP:0000347	HP:0000347	Micrognathia	0	FGFR2 CL E G H	2263	614592	Bent bone dysplasia syndrome	614592	C3281247	OMIM	1	567	3689	176943
HP:0000347	HP:0000347	Micrognathia	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0000347	HP:0000347	Micrognathia	0	FIG4 CL E G H	9896	3472	Meningococcemia			ORPHA	1	749	16873	609390
HP:0000347	HP:0000347	Micrognathia	0	FIG4 CL E G H	9896	216340	Yunis Varon syndrome	216340	C1857663	OMIM	1	749	16873	609390
HP:0000347	HP:0000347	Micrognathia	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	1833	27310	607273
HP:0000347	HP:0000347	Micrognathia	0	FLII CL E G H	2314	819				ORPHA	1	154	3750	600362
HP:0000347	HP:0000347	Micrognathia	0	FLNA CL E G H	2316	90652				ORPHA	1	2538	3754	300017
HP:0000347	HP:0000347	Micrognathia	0	FLNA CL E G H	2316	1826	Dexamethasone sensitive hypertension			ORPHA	1	2538	3754	300017
HP:0000347	HP:0000347	Micrognathia	0	FLNA CL E G H	2316	2484	Glaucoma type 1C			ORPHA	1	2538	3754	300017
HP:0000347	HP:0000347	Micrognathia	0	FLNA CL E G H	2316	309350	Melnick-Needles syndrome	309350	C0025237	OMIM	1	2538	3754	300017
HP:0000347	HP:0000347	Micrognathia	0	FLNA CL E G H	2316	304120	Oto-palato-digital syndrome, type II	304120	C1844696	OMIM	1	2538	3754	300017
HP:0000347	HP:0000347	Micrognathia	0	FLNB CL E G H	2317	108720	Atelosteogenesis type 1	108720	C0265283	OMIM	1	1155	3755	603381
HP:0000347	HP:0000347	Micrognathia	0	FLNB CL E G H	2317	108721	Atelosteogenesis type 3	108721	C3668942	OMIM	1	1155	3755	603381
HP:0000347	HP:0000347	Micrognathia	0	FLVCR2 CL E G H	55640	225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	225790	C1856972	OMIM	1	141	20105	610865
HP:0000347	HP:0000347	Micrognathia	0	FZD2 CL E G H	2535	3107				ORPHA	1	80	4040	600667
HP:0000347	HP:0000347	Micrognathia	0	GATA4 CL E G H	2626	251071				ORPHA	1	630	4173	600576
HP:0000347	HP:0000347	Micrognathia	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0000347	HP:0000347	Micrognathia	0	GHR CL E G H	2690	633				ORPHA	1	264	4263	600946
HP:0000347	HP:0000347	Micrognathia	0	GJA1 CL E G H	2697	257850	Oculodentodigital dysplasia, autosomal recessive	257850	C2749477	OMIM	1	221	4274	121014
HP:0000347	HP:0000347	Micrognathia	0	GLE1 CL E G H	2733	1486	Congenital herpes simplex			ORPHA	1	382	4315	603371
HP:0000347	HP:0000347	Micrognathia	0	GLE1 CL E G H	2733	253310	Lethal congenital contracture syndrome 1	253310	C1854664	OMIM	1	382	4315	603371
HP:0000347	HP:0000347	Micrognathia	0	GMNN CL E G H	51053	2554				ORPHA	1	54	17493	602842
HP:0000347	HP:0000347	Micrognathia	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	261	4416	602744
HP:0000347	HP:0000347	Micrognathia	0	GPC6 CL E G H	10082	93329				ORPHA	1	338	4454	604404
HP:0000347	HP:0000347	Micrognathia	0	GPC6 CL E G H	10082	258315	Omodysplasia 1	258315	C1850318	OMIM	1	338	4454	604404
HP:0000347	HP:0000347	Micrognathia	0	GSC CL E G H	145258	602471	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	602471	C1865361	OMIM	1	64	4612	138890
HP:0000347	HP:0000347	Micrognathia	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	163	4659	601679
HP:0000347	HP:0000347	Micrognathia	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	218	4661	604318
HP:0000347	HP:0000347	Micrognathia	0	H19 CL E G H	283120	180860	Russell-Silver syndrome	180860	C0175693	OMIM	1	58	4713	103280
HP:0000347	HP:0000347	Micrognathia	0	HBA1 CL E G H	3039	98791				ORPHA	1	379	4823	141800
HP:0000347	HP:0000347	Micrognathia	0	HBA2 CL E G H	3040	98791				ORPHA	1	333	4824	141850
HP:0000347	HP:0000347	Micrognathia	0	HCCS CL E G H	3052	2556				ORPHA	1	218	4837	300056
HP:0000347	HP:0000347	Micrognathia	0	HDAC8 CL E G H	55869	3459				ORPHA	1	322	13315	300269
HP:0000347	HP:0000347	Micrognathia	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	322	13315	300269
HP:0000347	HP:0000347	Micrognathia	0	HELLS CL E G H	3070	2268				ORPHA	1	194	4861	603946
HP:0000347	HP:0000347	Micrognathia	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	186	5042	300610
HP:0000347	HP:0000347	Micrognathia	0	HNRNPU CL E G H	3192	238769				ORPHA	1	692	5048	602869
HP:0000347	HP:0000347	Micrognathia	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	547	5173	190020
HP:0000347	HP:0000347	Micrognathia	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	786	5213	601860
HP:0000347	HP:0000347	Micrognathia	0	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0000347	HP:0000347	Micrognathia	0	HSPG2 CL E G H	3339	1865				ORPHA	1	1830	5273	142461
HP:0000347	HP:0000347	Micrognathia	0	HSPG2 CL E G H	3339	224410	Lethal Kniest-like syndrome	224410	C0432208	OMIM	1	1830	5273	142461
HP:0000347	HP:0000347	Micrognathia	0	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0000347	HP:0000347	Micrognathia	0	HYLS1 CL E G H	219844	2189				ORPHA	1	229	26558	610693
HP:0000347	HP:0000347	Micrognathia	0	HYMAI CL E G H	57061	96191				ORPHA	1	17	5326	606546
HP:0000347	HP:0000347	Micrognathia	0	HYOU1 CL E G H	10525	233600	Granulocytopenia with immunoglobulin abnormality	233600	C1856263	OMIM	1	298	16931	601746
HP:0000347	HP:0000347	Micrognathia	0	ICK CL E G H	22858	612651	Endocrine-cerebroosteodysplasia	612651	C2675227	OMIM	1		21219	612325
HP:0000347	HP:0000347	Micrognathia	0	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	1313	5391	252800
HP:0000347	HP:0000347	Micrognathia	0	IFT80 CL E G H	57560	93271				ORPHA	1	466	29262	611177
HP:0000347	HP:0000347	Micrognathia	0	IGF1 CL E G H	3479	73272				ORPHA	1	183	5464	147440
HP:0000347	HP:0000347	Micrognathia	0	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	183	5464	147440
HP:0000347	HP:0000347	Micrognathia	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0000347	HP:0000347	Micrognathia	0	IGF2 CL E G H	3481	180860	Russell-Silver syndrome	180860	C0175693	OMIM	1	98	5466	147470
HP:0000347	HP:0000347	Micrognathia	0	IGFALS CL E G H	3483	140941				ORPHA	1	165	5468	601489
HP:0000347	HP:0000347	Micrognathia	0	IMPAD1 CL E G H	54928	614078	Chondrodysplasia with joint dislocations, GPAPP type	614078	C3279757	OMIM	1		26019	614010
HP:0000347	HP:0000347	Micrognathia	0	IQSEC2 CL E G H	23096	819				ORPHA	1	955	29059	300522
HP:0000347	HP:0000347	Micrognathia	0	IRF6 CL E G H	3664	1300				ORPHA	1	278	6121	607199
HP:0000347	HP:0000347	Micrognathia	0	IRF6 CL E G H	3664	99798				ORPHA	1	278	6121	607199
HP:0000347	HP:0000347	Micrognathia	0	KAT6B CL E G H	23522	648				ORPHA	1	605	17582	605880
HP:0000347	HP:0000347	Micrognathia	0	KAT6B CL E G H	23522	3047				ORPHA	1	605	17582	605880
HP:0000347	HP:0000347	Micrognathia	0	KAT6B CL E G H	23522	85201				ORPHA	1	605	17582	605880
HP:0000347	HP:0000347	Micrognathia	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	605	17582	605880
HP:0000347	HP:0000347	Micrognathia	0	KAT6B CL E G H	23522	603736	Young Simpson syndrome	603736	C1863557	OMIM	1	605	17582	605880
HP:0000347	HP:0000347	Micrognathia	0	KCNJ6 CL E G H	3763	435628				ORPHA	1	122	6267	600877
HP:0000347	HP:0000347	Micrognathia	0	KCNJ6 CL E G H	3763	614098	Keppen-Lubinsky syndrome	614098	C3279800	OMIM	1	122	6267	600877
HP:0000347	HP:0000347	Micrognathia	0	KDM5C CL E G H	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	300534	C1845243	OMIM	1	596	11114	314690
HP:0000347	HP:0000347	Micrognathia	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	217	29110	617112
HP:0000347	HP:0000347	Micrognathia	0	KIF7 CL E G H	374654	2189				ORPHA	1	977	30497	611254
HP:0000347	HP:0000347	Micrognathia	0	KIF7 CL E G H	374654	2754				ORPHA	1	977	30497	611254
HP:0000347	HP:0000347	Micrognathia	0	KIF7 CL E G H	374654	614120	Hydrolethalus syndrome 2	614120	C3279899	OMIM	1	977	30497	611254
HP:0000347	HP:0000347	Micrognathia	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1317	7132	159555
HP:0000347	HP:0000347	Micrognathia	0	KNL1 CL E G H	57082	604321	Primary autosomal recessive microcephaly 4	604321	C1858516	OMIM	1	319	24054	609173
HP:0000347	HP:0000347	Micrognathia	0	KRAS CL E G H	3845	648				ORPHA	1	440	6407	190070
HP:0000347	HP:0000347	Micrognathia	0	LAGE3 CL E G H	8270	301006	GALLOWAY-MOWAT SYNDROME 2, X-LINKED	301006	C4538784	OMIM	1	233	26058	300060
HP:0000347	HP:0000347	Micrognathia	0	LAS1L CL E G H	81887	3459				ORPHA	1	243	25726	300964
HP:0000347	HP:0000347	Micrognathia	0	LBR CL E G H	3930	1426	Coleman Randall syndrome			ORPHA	1	285	6518	600024
HP:0000347	HP:0000347	Micrognathia	0	LBR CL E G H	3930	215140	Greenberg dysplasia	215140	C2931048	OMIM	1	285	6518	600024
HP:0000347	HP:0000347	Micrognathia	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	263	6556	604407
HP:0000347	HP:0000347	Micrognathia	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	263	6556	604407
HP:0000347	HP:0000347	Micrognathia	0	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	79	18712	608303
HP:0000347	HP:0000347	Micrognathia	0	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	721	6597	151443
HP:0000347	HP:0000347	Micrognathia	0	LIG4 CL E G H	3981	235				ORPHA	1	510	6601	601837
HP:0000347	HP:0000347	Micrognathia	0	LIG4 CL E G H	3981	99812				ORPHA	1	510	6601	601837
HP:0000347	HP:0000347	Micrognathia	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	201	6613	601329
HP:0000347	HP:0000347	Micrognathia	0	LMNA CL E G H	4000	1662				ORPHA	1	1622	6636	150330
HP:0000347	HP:0000347	Micrognathia	0	LMNA CL E G H	4000	79474				ORPHA	1	1622	6636	150330
HP:0000347	HP:0000347	Micrognathia	0	LMNA CL E G H	4000	280365				ORPHA	1	1622	6636	150330
HP:0000347	HP:0000347	Micrognathia	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1622	6636	150330
HP:0000347	HP:0000347	Micrognathia	0	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1622	6636	150330
HP:0000347	HP:0000347	Micrognathia	0	LMNA CL E G H	4000	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	1622	6636	150330
HP:0000347	HP:0000347	Micrognathia	0	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1622	6636	150330
HP:0000347	HP:0000347	Micrognathia	0	LRP4 CL E G H	4038	212780	Syndactyly Cenani Lenz type	212780	C1859309	OMIM	1	790	6696	604270
HP:0000347	HP:0000347	Micrognathia	0	LRP6 CL E G H	4040	99798				ORPHA	1	253	6698	603507
HP:0000347	HP:0000347	Micrognathia	0	LTBP4 CL E G H	8425	613177	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	613177	C2750804	OMIM	1	540	6717	604710
HP:0000347	HP:0000347	Micrognathia	0	LZTR1 CL E G H	8216	648				ORPHA	1	2408	6742	600574
HP:0000347	HP:0000347	Micrognathia	0	MAFB CL E G H	9935	2774	Hydrocephalus growth retardation skeletal anomalies			ORPHA	1	119	6408	608968
HP:0000347	HP:0000347	Micrognathia	0	MAFB CL E G H	9935	166300	Multicentric osteolysis nephropathy	166300	C2674705	OMIM	1	119	6408	608968
HP:0000347	HP:0000347	Micrognathia	0	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	398	6840	176872
HP:0000347	HP:0000347	Micrognathia	0	MAP3K7 CL E G H	6885	1826	Dexamethasone sensitive hypertension			ORPHA	1	161	6859	602614
HP:0000347	HP:0000347	Micrognathia	0	MAPRE2 CL E G H	10982	616734	Skin creases, congenital symmetric circumferential, 2	616734	C4225225	OMIM	1	64	6891	605789
HP:0000347	HP:0000347	Micrognathia	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	1149	20444	611472
HP:0000347	HP:0000347	Micrognathia	0	MCTP2 CL E G H	55784	1596				ORPHA	1	103	25636	616297
HP:0000347	HP:0000347	Micrognathia	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1778	6990	300005
HP:0000347	HP:0000347	Micrognathia	0	MED12 CL E G H	9968	776				ORPHA	1	1236	11957	300188
HP:0000347	HP:0000347	Micrognathia	0	MED12 CL E G H	9968	305450	FG syndrome	305450	C0220769	OMIM	1	1236	11957	300188
HP:0000347	HP:0000347	Micrognathia	0	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1236	11957	300188
HP:0000347	HP:0000347	Micrognathia	0	MED12 CL E G H	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	309520	C0796022	OMIM	1	1236	11957	300188
HP:0000347	HP:0000347	Micrognathia	0	MITF CL E G H	4286	617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	617306	C4310625	OMIM	1	394	7105	156845
HP:0000347	HP:0000347	Micrognathia	0	MKS1 CL E G H	54903	564				ORPHA	1	662	7121	609883
HP:0000347	HP:0000347	Micrognathia	0	MKS1 CL E G H	54903	249000	Meckel syndrome type 1	249000	C3714506	OMIM	1	662	7121	609883
HP:0000347	HP:0000347	Micrognathia	0	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000347	HP:0000347	Micrognathia	0	MSTO1 CL E G H	55154	502423				ORPHA	1	85	29678	617619
HP:0000347	HP:0000347	Micrognathia	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	85	29678	617619
HP:0000347	HP:0000347	Micrognathia	0	MSX1 CL E G H	4487	99798				ORPHA	1	163	7391	142983
HP:0000347	HP:0000347	Micrognathia	0	MUSK CL E G H	4593	994				ORPHA	1	496	7525	601296
HP:0000347	HP:0000347	Micrognathia	0	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	496	7525	601296
HP:0000347	HP:0000347	Micrognathia	0	MYCN CL E G H	4613	164280	Feingold syndrome 1	164280	C0796068	OMIM	1	146	7559	164840
HP:0000347	HP:0000347	Micrognathia	0	MYH3 CL E G H	4621	1147				ORPHA	1	641	7573	160720
HP:0000347	HP:0000347	Micrognathia	0	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000347	HP:0000347	Micrognathia	0	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	289	7578	160741
HP:0000347	HP:0000347	Micrognathia	0	MYMK CL E G H	389827	1358				ORPHA	1	75	33778	615345
HP:0000347	HP:0000347	Micrognathia	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	75	33778	615345
HP:0000347	HP:0000347	Micrognathia	0	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1162	18150	607295
HP:0000347	HP:0000347	Micrognathia	0	MYOD1 CL E G H	4654	994				ORPHA	1	35	7611	159970
HP:0000347	HP:0000347	Micrognathia	0	NALCN CL E G H	259232	1147				ORPHA	1	653	19082	611549
HP:0000347	HP:0000347	Micrognathia	0	NALCN CL E G H	259232	616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	616266	C4225398	OMIM	1	653	19082	611549
HP:0000347	HP:0000347	Micrognathia	0	NALCN CL E G H	259232	615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	615419	C3809454	OMIM	1	653	19082	611549
HP:0000347	HP:0000347	Micrognathia	0	NBN CL E G H	4683	251260	Microcephaly, normal intelligence and immunodeficiency	251260	C0398791	OMIM	1	3074	7652	602667
HP:0000347	HP:0000347	Micrognathia	0	NDUFB11 CL E G H	54539	2556				ORPHA	1	180	20372	300403
HP:0000347	HP:0000347	Micrognathia	0	NECTIN1 CL E G H	5818	3253	Limb dystonia			ORPHA	1	208	9706	600644
HP:0000347	HP:0000347	Micrognathia	0	NEDD4L CL E G H	23327	617201	Periventricular nodular heterotopia 7	617201	C4310669	OMIM	1	738	7728	606384
HP:0000347	HP:0000347	Micrognathia	0	NEK9 CL E G H	91754	617022	Lethal congenital contracture syndrome 10	617022	C4310760	OMIM	1	82	18591	609798
HP:0000347	HP:0000347	Micrognathia	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	174	12768	606026
HP:0000347	HP:0000347	Micrognathia	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1201	28862	608667
HP:0000347	HP:0000347	Micrognathia	0	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1201	28862	608667
HP:0000347	HP:0000347	Micrognathia	0	NOTCH2 CL E G H	4853	955				ORPHA	1	750	7882	600275
HP:0000347	HP:0000347	Micrognathia	0	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	750	7882	600275
HP:0000347	HP:0000347	Micrognathia	0	NOTCH3 CL E G H	4854	2789				ORPHA	1	1133	7883	600276
HP:0000347	HP:0000347	Micrognathia	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0000347	HP:0000347	Micrognathia	0	NRAS CL E G H	4893	648				ORPHA	1	250	7989	164790
HP:0000347	HP:0000347	Micrognathia	0	NSD1 CL E G H	64324	3447				ORPHA	1	1390	14234	606681
HP:0000347	HP:0000347	Micrognathia	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	363	12766	602952
HP:0000347	HP:0000347	Micrognathia	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	363	12766	602952
HP:0000347	HP:0000347	Micrognathia	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	312	13398	300275
HP:0000347	HP:0000347	Micrognathia	0	NSMCE2 CL E G H	286053	436182				ORPHA	1	86	26513	617246
HP:0000347	HP:0000347	Micrognathia	0	NSUN2 CL E G H	54888	235				ORPHA	1	443	25994	610916
HP:0000347	HP:0000347	Micrognathia	0	NUP107 CL E G H	57122	616730	Nephrotic syndrome, type 11	616730	C4225228	OMIM	1	149	29914	607617
HP:0000347	HP:0000347	Micrognathia	0	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	1	235	18008	612895
HP:0000347	HP:0000347	Micrognathia	0	OFD1 CL E G H	8481	2754				ORPHA	1	789	2567	300170
HP:0000347	HP:0000347	Micrognathia	0	ORC1 CL E G H	4998	2554				ORPHA	1	214	8487	601902
HP:0000347	HP:0000347	Micrognathia	0	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	214	8487	601902
HP:0000347	HP:0000347	Micrognathia	0	ORC4 CL E G H	5000	2554				ORPHA	1	166	8490	603056
HP:0000347	HP:0000347	Micrognathia	0	ORC4 CL E G H	5000	613800	Meier-Gorlin syndrome 2	613800	C3151097	OMIM	1	166	8490	603056
HP:0000347	HP:0000347	Micrognathia	0	ORC6 CL E G H	23594	2554				ORPHA	1	131	17151	607213
HP:0000347	HP:0000347	Micrognathia	0	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	106	18028	610107
HP:0000347	HP:0000347	Micrognathia	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	218	21652	607649
HP:0000347	HP:0000347	Micrognathia	0	P4HB CL E G H	5034	112240	Cole-Carpenter syndrome 1	112240	C4317154	OMIM	1	167	8548	176790
HP:0000347	HP:0000347	Micrognathia	0	P4HB CL E G H	5034	2050	Ectodermal dysplasia Margarita type			ORPHA	1	167	8548	176790
HP:0000347	HP:0000347	Micrognathia	0	PAX6 CL E G H	5080	893				ORPHA	1	688	8620	607108
HP:0000347	HP:0000347	Micrognathia	0	PAX9 CL E G H	5083	99798				ORPHA	1	179	8623	167416
HP:0000347	HP:0000347	Micrognathia	0	PCNT CL E G H	5116	808	Baker Vinters syndrome			ORPHA	1	1505	16068	605925
HP:0000347	HP:0000347	Micrognathia	0	PDE6D CL E G H	5147	2754				ORPHA	1	71	8788	602676
HP:0000347	HP:0000347	Micrognathia	0	PDGFRB CL E G H	5159	601812	Premature aging syndrome, Penttinen type	601812	C1866182	OMIM	1	345	8804	173410
HP:0000347	HP:0000347	Micrognathia	0	PEPD CL E G H	5184	742	Aortic dissection lentiginosis			ORPHA	1	362	8840	613230
HP:0000347	HP:0000347	Micrognathia	0	PEX1 CL E G H	5189	912				ORPHA	1	1205	8850	602136
HP:0000347	HP:0000347	Micrognathia	0	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1205	8850	602136
HP:0000347	HP:0000347	Micrognathia	0	PEX10 CL E G H	5192	912				ORPHA	1	654	8851	602859
HP:0000347	HP:0000347	Micrognathia	0	PEX11B CL E G H	8799	912				ORPHA	1	350	8853	603867
HP:0000347	HP:0000347	Micrognathia	0	PEX12 CL E G H	5193	912				ORPHA	1	360	8854	601758
HP:0000347	HP:0000347	Micrognathia	0	PEX13 CL E G H	5194	912				ORPHA	1	397	8855	601789
HP:0000347	HP:0000347	Micrognathia	0	PEX14 CL E G H	5195	912				ORPHA	1	374	8856	601791
HP:0000347	HP:0000347	Micrognathia	0	PEX14 CL E G H	5195	614887	Peroxisome biogenesis disorder 13A	614887	C3554004	OMIM	1	374	8856	601791
HP:0000347	HP:0000347	Micrognathia	0	PEX16 CL E G H	9409	912				ORPHA	1	346	8857	603360
HP:0000347	HP:0000347	Micrognathia	0	PEX19 CL E G H	5824	912				ORPHA	1	304	9713	600279
HP:0000347	HP:0000347	Micrognathia	0	PEX2 CL E G H	5828	912				ORPHA	1	366	9717	170993
HP:0000347	HP:0000347	Micrognathia	0	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	366	9717	170993
HP:0000347	HP:0000347	Micrognathia	0	PEX26 CL E G H	55670	912				ORPHA	1	431	22965	608666
HP:0000347	HP:0000347	Micrognathia	0	PEX3 CL E G H	8504	912				ORPHA	1	271	8858	603164
HP:0000347	HP:0000347	Micrognathia	0	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	271	8858	603164
HP:0000347	HP:0000347	Micrognathia	0	PEX5 CL E G H	5830	912				ORPHA	1	689	9719	600414
HP:0000347	HP:0000347	Micrognathia	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0000347	HP:0000347	Micrognathia	0	PEX6 CL E G H	5190	912				ORPHA	1	1085	8859	601498
HP:0000347	HP:0000347	Micrognathia	0	PEX7 CL E G H	5191	215100	Rhizomelic chondrodysplasia punctata type 1	215100	C1859133	OMIM	1	441	8860	601757
HP:0000347	HP:0000347	Micrognathia	0	PHF21A CL E G H	51317	52022				ORPHA	1	92	24156	608325
HP:0000347	HP:0000347	Micrognathia	0	PHGDH CL E G H	26227	256520	Neu-Laxova syndrome 1	256520	CN032230	OMIM	1	519	8923	606879
HP:0000347	HP:0000347	Micrognathia	0	PHIP CL E G H	55023	617991	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	617991	CN248510	OMIM	1	249	15673	612870
HP:0000347	HP:0000347	Micrognathia	0	PI4KA CL E G H	5297	616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	616531	C4225295	OMIM	1	631	8983	600286
HP:0000347	HP:0000347	Micrognathia	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	755	26270	613629
HP:0000347	HP:0000347	Micrognathia	0	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	755	26270	613629
HP:0000347	HP:0000347	Micrognathia	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0000347	HP:0000347	Micrognathia	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	1	421	8957	311770
HP:0000347	HP:0000347	Micrognathia	0	PIGN CL E G H	23556	2059				ORPHA	1	857	8967	606097
HP:0000347	HP:0000347	Micrognathia	0	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	857	8967	606097
HP:0000347	HP:0000347	Micrognathia	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	975	8975	171834
HP:0000347	HP:0000347	Micrognathia	0	PIK3R1 CL E G H	5295	269880	SHORT syndrome	269880	C0878684	OMIM	1	368	8979	171833
HP:0000347	HP:0000347	Micrognathia	0	PKHD1 CL E G H	5314	731				ORPHA	1	3397	9016	606702
HP:0000347	HP:0000347	Micrognathia	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	598	9039	603604
HP:0000347	HP:0000347	Micrognathia	0	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0000347	HP:0000347	Micrognathia	0	PLAA CL E G H	9373	617527	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	617527	C4479631	OMIM	1	338	9043	603873
HP:0000347	HP:0000347	Micrognathia	0	PLAGL1 CL E G H	5325	96191				ORPHA	1	32	9046	603044
HP:0000347	HP:0000347	Micrognathia	0	PLK4 CL E G H	10733	808	Baker Vinters syndrome			ORPHA	1	407	11397	605031
HP:0000347	HP:0000347	Micrognathia	0	PLK4 CL E G H	10733	616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	616171	C4015388	OMIM	1	407	11397	605031
HP:0000347	HP:0000347	Micrognathia	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0000347	HP:0000347	Micrognathia	0	POLR1A CL E G H	25885	616462	Acrofacial dysostosis, Cincinnati type	616462	C4225317	OMIM	1	415	17264	616404
HP:0000347	HP:0000347	Micrognathia	0	POLR1C CL E G H	9533	861				ORPHA	1	1267	20194	610060
HP:0000347	HP:0000347	Micrognathia	0	POLR1C CL E G H	9533	248390	Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive	248390	C1855433	OMIM	1	1267	20194	610060
HP:0000347	HP:0000347	Micrognathia	0	POLR1D CL E G H	51082	861				ORPHA	1	94	20422	613715
HP:0000347	HP:0000347	Micrognathia	0	POLR1D CL E G H	51082	613717	Treacher Collins syndrome 2	613717	C3150983	OMIM	1	94	20422	613715
HP:0000347	HP:0000347	Micrognathia	0	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	1	785	30074	614258
HP:0000347	HP:0000347	Micrognathia	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	943	19139	606822
HP:0000347	HP:0000347	Micrognathia	0	PQBP1 CL E G H	10084	93946				ORPHA	1	269	9330	300463
HP:0000347	HP:0000347	Micrognathia	0	PQBP1 CL E G H	10084	309500	Renpenning syndrome 1	309500	C0796135	OMIM	1	269	9330	300463
HP:0000347	HP:0000347	Micrognathia	0	PRRX1 CL E G H	5396	202650	Dysgnathia complex	202650	C1876185	OMIM	1	37	9142	167420
HP:0000347	HP:0000347	Micrognathia	0	PSAT1 CL E G H	29968	616038	Neu-laxova syndrome 2	616038	C4015019	OMIM	1	443	19129	610936
HP:0000347	HP:0000347	Micrognathia	0	PSMD12 CL E G H	5718	529962				ORPHA	1	53	9557	604450
HP:0000347	HP:0000347	Micrognathia	0	PSMD12 CL E G H	5718	617516	Stankiewicz-Isidor syndrome	617516	C4479599	OMIM	1	53	9557	604450
HP:0000347	HP:0000347	Micrognathia	0	PTDSS1 CL E G H	9791	151050	Lenz-Majewski hyperostosis syndrome	151050	C0432269	OMIM	1	131	9587	612792
HP:0000347	HP:0000347	Micrognathia	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2750	9588	601728
HP:0000347	HP:0000347	Micrognathia	0	PTH1R CL E G H	5745	50945				ORPHA	1	200	9608	168468
HP:0000347	HP:0000347	Micrognathia	0	PTH1R CL E G H	5745	215045	Chondrodysplasia Blomstrand type	215045	C1859148	OMIM	1	200	9608	168468
HP:0000347	HP:0000347	Micrognathia	0	PTH1R CL E G H	5745	156400	Metaphyseal chondrodysplasia, Jansen type	156400	C0265295	OMIM	1	200	9608	168468
HP:0000347	HP:0000347	Micrognathia	0	PTPN11 CL E G H	5781	648				ORPHA	1	716	9644	176876
HP:0000347	HP:0000347	Micrognathia	0	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	716	9644	176876
HP:0000347	HP:0000347	Micrognathia	0	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	337	15508	608109
HP:0000347	HP:0000347	Micrognathia	0	PUS1 CL E G H	80324	600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	600462	C1838103	OMIM	1	337	15508	608109
HP:0000347	HP:0000347	Micrognathia	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	443	26162	617220
HP:0000347	HP:0000347	Micrognathia	0	RAB18 CL E G H	22931	2510				ORPHA	1	180	14244	602207
HP:0000347	HP:0000347	Micrognathia	0	RAB18 CL E G H	22931	614222	Warburg micro syndrome 3	614222	C3280203	OMIM	1	180	14244	602207
HP:0000347	HP:0000347	Micrognathia	0	RAB23 CL E G H	51715	201000	Carpenter syndrome 1	201000	C1275078	OMIM	1	187	14263	606144
HP:0000347	HP:0000347	Micrognathia	0	RAB3GAP1 CL E G H	22930	2510				ORPHA	1	317	17063	602536
HP:0000347	HP:0000347	Micrognathia	0	RAB3GAP1 CL E G H	22930	1387	Cleft palate cardiac defect ectrodactyly			ORPHA	1	317	17063	602536
HP:0000347	HP:0000347	Micrognathia	0	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	317	17063	602536
HP:0000347	HP:0000347	Micrognathia	0	RAB3GAP2 CL E G H	25782	2510				ORPHA	1	474	17168	609275
HP:0000347	HP:0000347	Micrognathia	0	RAB3GAP2 CL E G H	25782	1387	Cleft palate cardiac defect ectrodactyly			ORPHA	1	474	17168	609275
HP:0000347	HP:0000347	Micrognathia	0	RAB3GAP2 CL E G H	25782	212720	Martsolf syndrome	212720	C0796037	OMIM	1	474	17168	609275
HP:0000347	HP:0000347	Micrognathia	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	293	9811	606462
HP:0000347	HP:0000347	Micrognathia	0	RAF1 CL E G H	5894	648				ORPHA	1	827	9829	164760
HP:0000347	HP:0000347	Micrognathia	0	RAI1 CL E G H	10743	819				ORPHA	1	1149	9834	607642
HP:0000347	HP:0000347	Micrognathia	0	RAI1 CL E G H	10743	1713				ORPHA	1	1149	9834	607642
HP:0000347	HP:0000347	Micrognathia	0	RAPSN CL E G H	5913	994				ORPHA	1	433	9863	601592
HP:0000347	HP:0000347	Micrognathia	0	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	433	9863	601592
HP:0000347	HP:0000347	Micrognathia	0	RARB CL E G H	5915	615524	Microphthalmia, syndromic 12	615524	C3809803	OMIM	1	97	9865	180220
HP:0000347	HP:0000347	Micrognathia	0	RASA2 CL E G H	5922	648				ORPHA	1	371	9872	601589
HP:0000347	HP:0000347	Micrognathia	0	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2487	9884	614041
HP:0000347	HP:0000347	Micrognathia	0	RBBP8 CL E G H	5932	808	Baker Vinters syndrome			ORPHA	1	237	9891	604124
HP:0000347	HP:0000347	Micrognathia	0	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	237	9891	604124
HP:0000347	HP:0000347	Micrognathia	0	RBM10 CL E G H	8241	311900	TARP syndrome	311900	C1839463	OMIM	1	229	9896	300080
HP:0000347	HP:0000347	Micrognathia	0	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	1	231	9905	605313
HP:0000347	HP:0000347	Micrognathia	0	RECQL4 CL E G H	9401	218600	Baller-Gerold syndrome	218600	C0265308	OMIM	1	3666	9949	603780
HP:0000347	HP:0000347	Micrognathia	0	RERE CL E G H	473	616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	616975	C4310772	OMIM	1	343	9965	605226
HP:0000347	HP:0000347	Micrognathia	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	180	9970	600404
HP:0000347	HP:0000347	Micrognathia	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	399	30220	611908
HP:0000347	HP:0000347	Micrognathia	0	RHOBTB2 CL E G H	23221	618004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	618004	CN248512	OMIM	1	399	18756	607352
HP:0000347	HP:0000347	Micrognathia	0	RIPK4 CL E G H	54101	1234	Chang Davidson Carlson syndrome			ORPHA	1	272	496	605706
HP:0000347	HP:0000347	Micrognathia	0	RIT1 CL E G H	6016	648				ORPHA	1	210	10023	609591
HP:0000347	HP:0000347	Micrognathia	0	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	187	13429	300379
HP:0000347	HP:0000347	Micrognathia	0	RNU4ATAC CL E G H	100151683	2636	Hemihypertrophy intestinal web corneal opacity			ORPHA	1	214	34016	601428
HP:0000347	HP:0000347	Micrognathia	0	RNU4ATAC CL E G H	100151683	210710	Osteodysplastic primordial dwarfism, type 1	210710	C1859452	OMIM	1	214	34016	601428
HP:0000347	HP:0000347	Micrognathia	0	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	1	474	10257	602337
HP:0000347	HP:0000347	Micrognathia	0	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	1	474	10257	602337
HP:0000347	HP:0000347	Micrognathia	0	RPGRIP1 CL E G H	57096	564				ORPHA	1	786	13436	605446
HP:0000347	HP:0000347	Micrognathia	0	RPGRIP1L CL E G H	23322	564				ORPHA	1	1135	29168	610937
HP:0000347	HP:0000347	Micrognathia	0	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	201	10360	603634
HP:0000347	HP:0000347	Micrognathia	0	RPS19 CL E G H	6223	105650	Diamond-Blackfan anemia 1	105650	C2676137	OMIM	1	172	10402	603474
HP:0000347	HP:0000347	Micrognathia	0	RPS28 CL E G H	6234	606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	606164	C1853576	OMIM	1	18	10418	603685
HP:0000347	HP:0000347	Micrognathia	0	RRAS CL E G H	6237	648				ORPHA	1	213	10447	165090
HP:0000347	HP:0000347	Micrognathia	0	RSPO2 CL E G H	340419	3301	Lowry syndrome			ORPHA	1	55	28583	610575
HP:0000347	HP:0000347	Micrognathia	0	RUNX2 CL E G H	860	1452				ORPHA	1	373	10472	600211
HP:0000347	HP:0000347	Micrognathia	0	RUNX2 CL E G H	860	119600	Cleidocranial dysostosis	119600	C0008928	OMIM	1	373	10472	600211
HP:0000347	HP:0000347	Micrognathia	0	SATB2 CL E G H	23314	251019				ORPHA	1	566	21637	608148
HP:0000347	HP:0000347	Micrognathia	0	SATB2 CL E G H	23314	612313	Chromosome 2q32-q33 deletion syndrome	612313	C2676739	OMIM	1	566	21637	608148
HP:0000347	HP:0000347	Micrognathia	0	SC5D CL E G H	6309	46059				ORPHA	1	220	10547	602286
HP:0000347	HP:0000347	Micrognathia	0	SEC24D CL E G H	9871	2050	Ectodermal dysplasia Margarita type			ORPHA	1	286	10706	607186
HP:0000347	HP:0000347	Micrognathia	0	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	451	10727	608166
HP:0000347	HP:0000347	Micrognathia	0	SERPINH1 CL E G H	871	613848	Osteogenesis imperfecta type 10	613848	C3151211	OMIM	1	162	1546	600943
HP:0000347	HP:0000347	Micrognathia	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	617	25566	615743
HP:0000347	HP:0000347	Micrognathia	0	SETD5 CL E G H	55209	615761	Mental retardation, autosomal dominant 23	615761	C3810406	OMIM	1	617	25566	615743
HP:0000347	HP:0000347	Micrognathia	0	SF3B4 CL E G H	10262	245				ORPHA	1	86	10771	605593
HP:0000347	HP:0000347	Micrognathia	0	SF3B4 CL E G H	10262	154400	Nager syndrome	154400	C0265245	OMIM	1	86	10771	605593
HP:0000347	HP:0000347	Micrognathia	0	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	428	29242	613293
HP:0000347	HP:0000347	Micrognathia	0	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0000347	HP:0000347	Micrognathia	0	SHOX CL E G H	6473	249700	Langer mesomelic dysplasia syndrome	249700	C0432230	OMIM	1	311	10853	312865
HP:0000347	HP:0000347	Micrognathia	0	SKI CL E G H	6497	2462				ORPHA	1	910	10896	164780
HP:0000347	HP:0000347	Micrognathia	0	SLC25A19 CL E G H	60386	99742				ORPHA	1	136	14409	606521
HP:0000347	HP:0000347	Micrognathia	0	SLC25A19 CL E G H	60386	607196	Amish lethal microcephaly	607196	C1846648	OMIM	1	136	14409	606521
HP:0000347	HP:0000347	Micrognathia	0	SLC25A24 CL E G H	29957	612289	Fontaine progeroid syndrome	612289	C2676780	OMIM	1	83	20662	608744
HP:0000347	HP:0000347	Micrognathia	0	SLC26A2 CL E G H	1836	93298				ORPHA	1	549	10994	606718
HP:0000347	HP:0000347	Micrognathia	0	SLC26A2 CL E G H	1836	256050	Atelosteogenesis type 2	256050	C1850554	OMIM	1	549	10994	606718
HP:0000347	HP:0000347	Micrognathia	0	SLC2A10 CL E G H	81031	208050	Arterial tortuosity syndrome	208050	C1859726	OMIM	1	493	13444	606145
HP:0000347	HP:0000347	Micrognathia	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	798	11111	300040
HP:0000347	HP:0000347	Micrognathia	0	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	798	11111	300040
HP:0000347	HP:0000347	Micrognathia	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	358	2468	606062
HP:0000347	HP:0000347	Micrognathia	0	SNRPB CL E G H	6628	1393				ORPHA	1	74	11153	182282
HP:0000347	HP:0000347	Micrognathia	0	SNRPB CL E G H	6628	117650	Cerebro-costo-mandibular syndrome	117650	C0265342	OMIM	1	74	11153	182282
HP:0000347	HP:0000347	Micrognathia	0	SOS1 CL E G H	6654	648				ORPHA	1	1224	11187	182530
HP:0000347	HP:0000347	Micrognathia	0	SOS2 CL E G H	6655	648				ORPHA	1	916	11188	601247
HP:0000347	HP:0000347	Micrognathia	0	SOX9 CL E G H	6662	718	Anophthalmia microcephaly hypogonadism			ORPHA	1	280	11204	608160
HP:0000347	HP:0000347	Micrognathia	0	SOX9 CL E G H	6662	140	Atresia of small intestine			ORPHA	1	280	11204	608160
HP:0000347	HP:0000347	Micrognathia	0	SOX9 CL E G H	6662	114290	Camptomelic dysplasia	114290	C1861922	OMIM	1	280	11204	608160
HP:0000347	HP:0000347	Micrognathia	0	SP7 CL E G H	121340	613849	Osteogenesis imperfecta type 12	613849	C3151433	OMIM	1	93	17321	606633
HP:0000347	HP:0000347	Micrognathia	0	SPECC1L CL E G H	23384	145410	Opitz G/BBB syndrome	145410	C1801950	OMIM	1	230	29022	614140
HP:0000347	HP:0000347	Micrognathia	0	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	907	16901	615950
HP:0000347	HP:0000347	Micrognathia	0	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	603	20249	609291
HP:0000347	HP:0000347	Micrognathia	0	SPRTN CL E G H	83932	616200	Ruijs-Aalfs syndrome	616200	C4015461	OMIM	1	55	25356	616086
HP:0000347	HP:0000347	Micrognathia	0	SSR4 CL E G H	6748	300934	Congenital disorder of glycosylation type 1y	300934	C4012395	OMIM	1	284	11326	300090
HP:0000347	HP:0000347	Micrognathia	0	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	188	28423	615521
HP:0000347	HP:0000347	Micrognathia	0	STRA6 CL E G H	64220	601186	Microphthalmia syndromic 9	601186	C1832661	OMIM	1	262	30650	610745
HP:0000347	HP:0000347	Micrognathia	0	SUMO1 CL E G H	7341	99798				ORPHA	1	51	12502	601912
HP:0000347	HP:0000347	Micrognathia	0	SUZ12 CL E G H	23512	3447				ORPHA	1	103	17101	606245
HP:0000347	HP:0000347	Micrognathia	0	TAB2 CL E G H	23118	228410				ORPHA	1	175	17075	605101
HP:0000347	HP:0000347	Micrognathia	0	TAPT1 CL E G H	202018	616897	Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type	616897	C4225162	OMIM	1	223	26887	612758
HP:0000347	HP:0000347	Micrognathia	0	TBC1D20 CL E G H	128637	2510				ORPHA	1	154	16133	611663
HP:0000347	HP:0000347	Micrognathia	0	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	445	11581	604649
HP:0000347	HP:0000347	Micrognathia	0	TBCE CL E G H	6905	241410	Hypoparathyroidism retardation dysmorphism syndrome	241410	C1855840	OMIM	1	357	11582	604934
HP:0000347	HP:0000347	Micrognathia	0	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	1	357	11582	604934
HP:0000347	HP:0000347	Micrognathia	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	166	11586	605842
HP:0000347	HP:0000347	Micrognathia	0	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	972	11592	602054
HP:0000347	HP:0000347	Micrognathia	0	TBX15 CL E G H	6913	260660	Cousin syndrome	260660	C1850040	OMIM	1	118	11594	604127
HP:0000347	HP:0000347	Micrognathia	0	TBX4 CL E G H	9496	147891	Ischiopatellar dysplasia	147891	C1840061	OMIM	1	238	11603	601719
HP:0000347	HP:0000347	Micrognathia	0	TCOF1 CL E G H	6949	861				ORPHA	1	523	11654	606847
HP:0000347	HP:0000347	Micrognathia	0	TCTN2 CL E G H	79867	564				ORPHA	1	453	25774	613846
HP:0000347	HP:0000347	Micrognathia	0	TCTN3 CL E G H	26123	2754				ORPHA	1	327	24519	613847
HP:0000347	HP:0000347	Micrognathia	0	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	327	24519	613847
HP:0000347	HP:0000347	Micrognathia	0	TCTN3 CL E G H	26123	258860	Orofacial-digital syndrome IV	258860	C0406727	OMIM	1	327	24519	613847
HP:0000347	HP:0000347	Micrognathia	0	TENT5A CL E G H	55603	617952	OSTEOGENESIS IMPERFECTA, TYPE XVIII	617952	CN244563	OMIM	1	85	18345	611357
HP:0000347	HP:0000347	Micrognathia	0	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	158	11742	107580
HP:0000347	HP:0000347	Micrognathia	0	TGDS CL E G H	23483	616145	Catel Manzke syndrome	616145	C1844887	OMIM	1	122	20324	616146
HP:0000347	HP:0000347	Micrognathia	0	TGDS CL E G H	23483	1388	Cleft palate colobomata radial synostosis deafness			ORPHA	1	122	20324	616146
HP:0000347	HP:0000347	Micrognathia	0	TGFA CL E G H	7039	99798				ORPHA	1	18	11765	190170
HP:0000347	HP:0000347	Micrognathia	0	TGFBR1 CL E G H	7046	60030				ORPHA	1	778	11772	190181
HP:0000347	HP:0000347	Micrognathia	0	TGFBR1 CL E G H	7046	609192	Loeys-Dietz syndrome 1	609192	C2697933	OMIM	1	778	11772	190181
HP:0000347	HP:0000347	Micrognathia	0	TGFBR2 CL E G H	7048	60030				ORPHA	1	842	11773	190182
HP:0000347	HP:0000347	Micrognathia	0	TGFBR2 CL E G H	7048	610168	Loeys-Dietz syndrome 2	610168	C2674876	OMIM	1	842	11773	190182
HP:0000347	HP:0000347	Micrognathia	0	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	1	65	18188	614123
HP:0000347	HP:0000347	Micrognathia	0	TMEM107 CL E G H	84314	564				ORPHA	1	207	28128	616183
HP:0000347	HP:0000347	Micrognathia	0	TMEM216 CL E G H	51259	564				ORPHA	1	195	25018	613277
HP:0000347	HP:0000347	Micrognathia	0	TMEM216 CL E G H	51259	2754				ORPHA	1	195	25018	613277
HP:0000347	HP:0000347	Micrognathia	0	TMEM231 CL E G H	79583	564				ORPHA	1	341	37234	614949
HP:0000347	HP:0000347	Micrognathia	0	TMEM67 CL E G H	91147	564				ORPHA	1	674	28396	609884
HP:0000347	HP:0000347	Micrognathia	0	TNNI2 CL E G H	7136	1147				ORPHA	1	113	11946	191043
HP:0000347	HP:0000347	Micrognathia	0	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000347	HP:0000347	Micrognathia	0	TNNT3 CL E G H	7140	1147				ORPHA	1	196	11950	600692
HP:0000347	HP:0000347	Micrognathia	0	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000347	HP:0000347	Micrognathia	0	TOE1 CL E G H	114034	614969	Pontocerebellar hypoplasia, type 7	614969	C3554226	OMIM	1	198	15954	613931
HP:0000347	HP:0000347	Micrognathia	0	TP63 CL E G H	8626	1071				ORPHA	1	508	15979	603273
HP:0000347	HP:0000347	Micrognathia	0	TPM2 CL E G H	7169	1147				ORPHA	1	280	12011	190990
HP:0000347	HP:0000347	Micrognathia	0	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000347	HP:0000347	Micrognathia	0	TRAIP CL E G H	10293	808	Baker Vinters syndrome			ORPHA	1	47	30764	605958
HP:0000347	HP:0000347	Micrognathia	0	TRIO CL E G H	7204	617061	Mental retardation, autosomal dominant 44	617061	C4310740	OMIM	1	930	12303	601893
HP:0000347	HP:0000347	Micrognathia	0	TRIP11 CL E G H	9321	93299				ORPHA	1	608	12305	604505
HP:0000347	HP:0000347	Micrognathia	0	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	215	12307	604507
HP:0000347	HP:0000347	Micrognathia	0	TRPS1 CL E G H	7227	77258				ORPHA	1	400	12340	604386
HP:0000347	HP:0000347	Micrognathia	0	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	400	12340	604386
HP:0000347	HP:0000347	Micrognathia	0	TSR2 CL E G H	90121	300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	300946	C4225422	OMIM	1	170	25455	300945
HP:0000347	HP:0000347	Micrognathia	0	TWIST1 CL E G H	7291	617746	SWEENEY-COX SYNDROME	617746	C4540299	OMIM	1	176	12428	601622
HP:0000347	HP:0000347	Micrognathia	0	TXNL4A CL E G H	10907	608572	Burn-McKeown syndrome	608572	C1837822	OMIM	1	204	30551	611595
HP:0000347	HP:0000347	Micrognathia	0	UBA1 CL E G H	7317	1145				ORPHA	1	531	12469	314370
HP:0000347	HP:0000347	Micrognathia	0	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	531	12469	314370
HP:0000347	HP:0000347	Micrognathia	0	UBE3B CL E G H	89910	2707				ORPHA	1	110	13478	608047
HP:0000347	HP:0000347	Micrognathia	0	UPF3B CL E G H	65109	776				ORPHA	1	314	20439	300298
HP:0000347	HP:0000347	Micrognathia	0	VAC14 CL E G H	55697	3472	Meningococcemia			ORPHA	1	220	25507	604632
HP:0000347	HP:0000347	Micrognathia	0	VARS CL E G H	7407	617802	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	617802	C4540493	OMIM	1		12651	192150
HP:0000347	HP:0000347	Micrognathia	0	VPS13B CL E G H	157680	193				ORPHA	1	3788	2183	607817
HP:0000347	HP:0000347	Micrognathia	0	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	3788	2183	607817
HP:0000347	HP:0000347	Micrognathia	0	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	288	12712	608552
HP:0000347	HP:0000347	Micrognathia	0	WASHC5 CL E G H	9897	220210	Dandy-Walker like malformation with atrioventricular septal defect	220210	C0796137	OMIM	1	527	28984	610657
HP:0000347	HP:0000347	Micrognathia	0	WDPCP CL E G H	51057	564				ORPHA	1	428	28027	613580
HP:0000347	HP:0000347	Micrognathia	0	WDR26 CL E G H	80232	617616	SKRABAN-DEARDORFF SYNDROME	617616	C4539927	OMIM	1	125	21208	617424
HP:0000347	HP:0000347	Micrognathia	0	WDR34 CL E G H	89891	93271				ORPHA	1		28296	613363
HP:0000347	HP:0000347	Micrognathia	0	WDR35 CL E G H	57539	93271				ORPHA	1	523	29250	613602
HP:0000347	HP:0000347	Micrognathia	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	523	29250	613602
HP:0000347	HP:0000347	Micrognathia	0	WDR60 CL E G H	55112	93271				ORPHA	1		21862	615462
HP:0000347	HP:0000347	Micrognathia	0	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	138	25928	616144
HP:0000347	HP:0000347	Micrognathia	0	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000347	HP:0000347	Micrognathia	0	WNT10A CL E G H	80326	99798				ORPHA	1	359	13829	606268
HP:0000347	HP:0000347	Micrognathia	0	WNT10B CL E G H	7480	99798				ORPHA	1	49	12775	601906
HP:0000347	HP:0000347	Micrognathia	0	WNT3 CL E G H	7473	3301	Lowry syndrome			ORPHA	1	69	12782	165330
HP:0000347	HP:0000347	Micrognathia	0	WNT3 CL E G H	7473	273395	Tetraamelia, autosomal recessive	273395	C4012268	OMIM	1	69	12782	165330
HP:0000347	HP:0000347	Micrognathia	0	WNT5A CL E G H	7474	3107				ORPHA	1	136	12784	164975
HP:0000347	HP:0000347	Micrognathia	0	WNT5A CL E G H	7474	180700	Robinow syndrome	180700	C0265205	OMIM	1	136	12784	164975
HP:0000347	HP:0000347	Micrognathia	0	WNT7A CL E G H	7476	2879				ORPHA	1	83	12786	601570
HP:0000347	HP:0000347	Micrognathia	0	WT1 CL E G H	7490	893				ORPHA	1	1146	12796	607102
HP:0000347	HP:0000347	Micrognathia	0	XRCC4 CL E G H	7518	99812				ORPHA	1	86	12831	194363
HP:0000347	HP:0000347	Micrognathia	0	XRCC4 CL E G H	7518	436182				ORPHA	1	86	12831	194363
HP:0000347	HP:0000347	Micrognathia	0	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	156	24249	610957
HP:0000347	HP:0000347	Micrognathia	0	ZBTB18 CL E G H	10472	36367				ORPHA	1	202	13030	608433
HP:0000347	HP:0000347	Micrognathia	0	ZBTB18 CL E G H	10472	612337	Mental retardation, autosomal dominant 22	612337	C2676727	OMIM	1	202	13030	608433
HP:0000347	HP:0000347	Micrognathia	0	ZBTB24 CL E G H	9841	2268				ORPHA	1	246	21143	614064
HP:0000347	HP:0000347	Micrognathia	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	237	24931	300897
HP:0000347	HP:0000347	Micrognathia	0	ZDHHC9 CL E G H	51114	776				ORPHA	1	331	18475	300646
HP:0000347	HP:0000347	Micrognathia	0	ZMPSTE24 CL E G H	10269	1662				ORPHA	1	176	12877	606480
HP:0000347	HP:0000347	Micrognathia	0	ZMPSTE24 CL E G H	10269	90154				ORPHA	1	176	12877	606480
HP:0000347	HP:0000347	Micrognathia	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	176	12877	606480
HP:0000347	HP:0000347	Micrognathia	0	ZMPSTE24 CL E G H	10269	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	176	12877	606480
HP:0000347	HP:0000347	Micrognathia	0	ZMPSTE24 CL E G H	10269	608612	Mandibuloacral dysplasia with type B lipodystrophy	608612	C1837756	OMIM	1	176	12877	606480
HP:0000347	HP:0000347	Micrognathia	0	ZNF335 CL E G H	63925	615095	Primary autosomal recessive microcephaly 10	615095	C3554499	OMIM	1	311	15807	610827
HP:0000347	HP:0000347	Micrognathia	0	ZNF341 CL E G H	84905	618282	618282	618282		OMIM	1	313	15992	0
HP:0000347	HP:0003778	Short mandibular rami	1	A2ML1 CL E G H	144568	648				ORPHA	1	1146	23336	610627
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	A2ML1 CL E G H	144568	648				ORPHA	1	1146	23336	610627
HP:0000347	HP:0000308	Microretrognathia	1	A2ML1 CL E G H	144568	648				ORPHA	1	1146	23336	610627
HP:0000347	HP:0003778	Short mandibular rami	1	ABCC9 CL E G H	10060	965	Brachydactyly dwarfism mental retardation			ORPHA	1	1266	60	601439
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ABCC9 CL E G H	10060	965	Brachydactyly dwarfism mental retardation			ORPHA	1	1266	60	601439
HP:0000347	HP:0000308	Microretrognathia	1	ABCC9 CL E G H	10060	965	Brachydactyly dwarfism mental retardation			ORPHA	1	1266	60	601439
HP:0000347	HP:0003778	Short mandibular rami	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	406	132	102630
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	406	132	102630
HP:0000347	HP:0000308	Microretrognathia	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	406	132	102630
HP:0000347	HP:0003778	Short mandibular rami	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	412	144	102560
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	412	144	102560
HP:0000347	HP:0000308	Microretrognathia	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	412	144	102560
HP:0000347	HP:0003778	Short mandibular rami	1	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000347	HP:0000308	Microretrognathia	1	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000347	HP:0003778	Short mandibular rami	1	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	1221	218	604539
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	1221	218	604539
HP:0000347	HP:0000308	Microretrognathia	1	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	1221	218	604539
HP:0000347	HP:0003778	Short mandibular rami	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	96	13841	612243
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	96	13841	612243
HP:0000347	HP:0000308	Microretrognathia	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	96	13841	612243
HP:0000347	HP:0003778	Short mandibular rami	1	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000347	HP:0000308	Microretrognathia	1	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000347	HP:0003778	Short mandibular rami	1	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	455	25230	615790
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	455	25230	615790
HP:0000347	HP:0000308	Microretrognathia	1	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	455	25230	615790
HP:0000347	HP:0003778	Short mandibular rami	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0000347	HP:0000308	Microretrognathia	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0000347	HP:0003778	Short mandibular rami	1	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	495	18294	605907
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	495	18294	605907
HP:0000347	HP:0000308	Microretrognathia	1	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	495	18294	605907
HP:0000347	HP:0003778	Short mandibular rami	1	ALX4 CL E G H	60529	52022				ORPHA	1	251	450	605420
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ALX4 CL E G H	60529	52022				ORPHA	1	251	450	605420
HP:0000347	HP:0000308	Microretrognathia	1	ALX4 CL E G H	60529	52022				ORPHA	1	251	450	605420
HP:0000347	HP:0003778	Short mandibular rami	1	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	293	26837	300647
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	293	26837	300647
HP:0000347	HP:0000308	Microretrognathia	1	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	293	26837	300647
HP:0000347	HP:0003778	Short mandibular rami	1	AMMECR1 CL E G H	9949	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	300990	C4310810	OMIM	1	197	467	300195
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	AMMECR1 CL E G H	9949	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	300990	C4310810	OMIM	1	197	467	300195
HP:0000347	HP:0000308	Microretrognathia	1	AMMECR1 CL E G H	9949	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	300990	C4310810	OMIM	1	197	467	300195
HP:0000347	HP:0003778	Short mandibular rami	1	ANK1 CL E G H	286	251066				ORPHA	1	642	492	612641
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ANK1 CL E G H	286	251066				ORPHA	1	642	492	612641
HP:0000347	HP:0000308	Microretrognathia	1	ANK1 CL E G H	286	251066				ORPHA	1	642	492	612641
HP:0000347	HP:0003778	Short mandibular rami	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	191	29101	616062
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	191	29101	616062
HP:0000347	HP:0000308	Microretrognathia	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	191	29101	616062
HP:0000347	HP:0003778	Short mandibular rami	1	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	1	1515	21316	611192
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	1	1515	21316	611192
HP:0000347	HP:0000308	Microretrognathia	1	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	1	1515	21316	611192
HP:0000347	HP:0003778	Short mandibular rami	1	ANTXR1 CL E G H	84168	2067				ORPHA	1	90	21014	606410
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ANTXR1 CL E G H	84168	2067				ORPHA	1	90	21014	606410
HP:0000347	HP:0000308	Microretrognathia	1	ANTXR1 CL E G H	84168	2067				ORPHA	1	90	21014	606410
HP:0000347	HP:0003778	Short mandibular rami	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	90	21014	606410
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	90	21014	606410
HP:0000347	HP:0000308	Microretrognathia	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	90	21014	606410
HP:0000347	HP:0003778	Short mandibular rami	1	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000347	HP:0000308	Microretrognathia	1	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000347	HP:0003778	Short mandibular rami	1	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	679	18060	300382
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	679	18060	300382
HP:0000347	HP:0000308	Microretrognathia	1	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	679	18060	300382
HP:0000347	HP:0003778	Short mandibular rami	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0000347	HP:0000308	Microretrognathia	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0000347	HP:0003778	Short mandibular rami	1	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	503	18318	612990
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	503	18318	612990
HP:0000347	HP:0000308	Microretrognathia	1	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	503	18318	612990
HP:0000347	HP:0003778	Short mandibular rami	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0000347	HP:0000308	Microretrognathia	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0000347	HP:0003778	Short mandibular rami	1	ATP7A CL E G H	538	565				ORPHA	1	1283	869	300011
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ATP7A CL E G H	538	565				ORPHA	1	1283	869	300011
HP:0000347	HP:0000308	Microretrognathia	1	ATP7A CL E G H	538	565				ORPHA	1	1283	869	300011
HP:0000347	HP:0003778	Short mandibular rami	1	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	2273	882	601215
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	2273	882	601215
HP:0000347	HP:0000308	Microretrognathia	1	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	2273	882	601215
HP:0000347	HP:0003778	Short mandibular rami	1	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	2273	882	601215
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	2273	882	601215
HP:0000347	HP:0000308	Microretrognathia	1	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	2273	882	601215
HP:0000347	HP:0003778	Short mandibular rami	1	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	374	33499	606605
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	374	33499	606605
HP:0000347	HP:0000308	Microretrognathia	1	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	374	33499	606605
HP:0000347	HP:0003778	Short mandibular rami	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1544	886	300032
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1544	886	300032
HP:0000347	HP:0000308	Microretrognathia	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1544	886	300032
HP:0000347	HP:0003778	Short mandibular rami	1	AXIN2 CL E G H	8313	99798				ORPHA	1	2777	904	604025
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	AXIN2 CL E G H	8313	99798				ORPHA	1	2777	904	604025
HP:0000347	HP:0000308	Microretrognathia	1	AXIN2 CL E G H	8313	99798				ORPHA	1	2777	904	604025
HP:0000347	HP:0003778	Short mandibular rami	1	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000347	HP:0000308	Microretrognathia	1	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000347	HP:0003778	Short mandibular rami	1	B3GLCT CL E G H	145173	709				ORPHA	1	266	20207	610308
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	B3GLCT CL E G H	145173	709				ORPHA	1	266	20207	610308
HP:0000347	HP:0000308	Microretrognathia	1	B3GLCT CL E G H	145173	709				ORPHA	1	266	20207	610308
HP:0000347	HP:0003778	Short mandibular rami	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	266	20207	610308
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	266	20207	610308
HP:0000347	HP:0000308	Microretrognathia	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	266	20207	610308
HP:0000347	HP:0003778	Short mandibular rami	1	B9D1 CL E G H	27077	564				ORPHA	1	253	24123	614144
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	B9D1 CL E G H	27077	564				ORPHA	1	253	24123	614144
HP:0000347	HP:0000308	Microretrognathia	1	B9D1 CL E G H	27077	564				ORPHA	1	253	24123	614144
HP:0000347	HP:0003778	Short mandibular rami	1	B9D2 CL E G H	80776	564				ORPHA	1	56	28636	611951
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	B9D2 CL E G H	80776	564				ORPHA	1	56	28636	611951
HP:0000347	HP:0000308	Microretrognathia	1	B9D2 CL E G H	80776	564				ORPHA	1	56	28636	611951
HP:0000347	HP:0003778	Short mandibular rami	1	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000347	HP:0000308	Microretrognathia	1	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000347	HP:0003778	Short mandibular rami	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	196	961	605681
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	196	961	605681
HP:0000347	HP:0000308	Microretrognathia	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	196	961	605681
HP:0000347	HP:0003778	Short mandibular rami	1	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	330	13222	606558
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	330	13222	606558
HP:0000347	HP:0000308	Microretrognathia	1	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	330	13222	606558
HP:0000347	HP:0003778	Short mandibular rami	1	BDNF CL E G H	627	893				ORPHA	1	57	1033	113505
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	BDNF CL E G H	627	893				ORPHA	1	57	1033	113505
HP:0000347	HP:0000308	Microretrognathia	1	BDNF CL E G H	627	893				ORPHA	1	57	1033	113505
HP:0000347	HP:0003778	Short mandibular rami	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	590	17208	609797
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	590	17208	609797
HP:0000347	HP:0000308	Microretrognathia	1	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	590	17208	609797
HP:0000347	HP:0003778	Short mandibular rami	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0000347	HP:0000308	Microretrognathia	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0000347	HP:0003778	Short mandibular rami	1	BPTF CL E G H	2186	529962				ORPHA	1	191	3581	601819
HP:0000347	HP:0410219	Hypoplasia of mandible relative to maxilla	1	BPTF CL E G H	2186