Human Phenotype Ontology

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

Grandparent Node:
Abnormal axial skeleton morphology (HP:0009121)

Grandparent Node:
Aplasia/hypoplasia involving the skeleton (HP:0009115)

Parent Node:
Abnormal thorax morphology (HP:0000765)

Parent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

..Starting node
..Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)

Term ID:

6711

Name:

Aplasia/Hypoplasia involving bones of the thorax

Synonym:

Absent/small outermost thorax bone; Absent/underdeveloped thorax bone

Definition:

Comments:

Reference:

HP:0006711

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the clavicles (HP:0006710)

................... HP:0000894 Short clavicles
................... HP:0006585 Congenital pseudoarthrosis of the clavicle
................... HP:0006638 Midclavicular aplasia
................... HP:0006660 Aplastic clavicle

........

Aplasia/Hypoplasia of the ribs (HP:0006712)

................... HP:0000773 Short ribs
................... HP:0000921 Missing ribs

........

Aplasia/Hypoplasia of the scapulae (HP:0006713)

................... HP:0000882 Hypoplastic scapulae
................... HP:0010317 Scapular aplasia

........

Aplasia/Hypoplasia of the sternum (HP:0006714)

................... HP:0000879 Short sternum
................... HP:0006590 Premature sternal synostosis
................... HP:0006628 Absent sternal ossification
................... HP:0010308 Asternia

Sister Nodes:

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

Aplasia/Hypoplasia involving the vertebral column (HP:0008518)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2			222
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E			25
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis			19
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0006711	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2			222
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E			25
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis			19
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006714	Aplasia/Hypoplasia of the sternum	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0006711	HP:0006713	Aplasia/Hypoplasia of the scapulae	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0006711	HP:0006712	Aplasia/Hypoplasia of the ribs	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0006711	HP:0006710	Aplasia/Hypoplasia of the clavicles	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0006711	HP:0010308	Asternia	2	CL E G H
HP:0006711	HP:0006590	Premature sternal synostosis	2	CL E G H
HP:0006711	HP:0010317	Scapular aplasia	2	CL E G H
HP:0006711	HP:0000882	Hypoplastic scapulae	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0006711	HP:0000882	Hypoplastic scapulae	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0006711	HP:0000921	Missing ribs	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0006711	HP:0000773	Short ribs	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0006711	HP:0000773	Short ribs	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0006711	HP:0000894	Short clavicles	2	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		132
HP:0006711	HP:0000879	Short sternum	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0006711	HP:0000921	Missing ribs	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0006711	HP:0000894	Short clavicles	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0006711	HP:0006660	Aplastic clavicle	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0006711	HP:0000921	Missing ribs	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0006711	HP:0000921	Missing ribs	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0006711	HP:0000921	Missing ribs	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0006711	HP:0000894	Short clavicles	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0006711	HP:0000921	Missing ribs	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0006711	HP:0000894	Short clavicles	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0006711	HP:0000894	Short clavicles	2	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0006711	HP:0000921	Missing ribs	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0006711	HP:0000921	Missing ribs	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0006711	HP:0000921	Missing ribs	2	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent		78
HP:0006711	HP:0000894	Short clavicles	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0006711	HP:0000879	Short sternum	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0006711	HP:0000773	Short ribs	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0006711	HP:0000921	Missing ribs	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0006711	HP:0000921	Missing ribs	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0006711	HP:0000894	Short clavicles	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0006711	HP:0006660	Aplastic clavicle	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0006711	HP:0006660	Aplastic clavicle	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0006711	HP:0006660	Aplastic clavicle	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0006711	HP:0000921	Missing ribs	2	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0006711	HP:0000773	Short ribs	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0006711	HP:0000921	Missing ribs	2	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0006711	HP:0000894	Short clavicles	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0006711	HP:0000921	Missing ribs	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0006711	HP:0000882	Hypoplastic scapulae	2	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent		215
HP:0006711	HP:0000882	Hypoplastic scapulae	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0006711	HP:0000773	Short ribs	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent		215
HP:0006711	HP:0000773	Short ribs	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0006711	HP:0000882	Hypoplastic scapulae	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0006711	HP:0000773	Short ribs	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent		222
HP:0006711	HP:0000882	Hypoplastic scapulae	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0006711	HP:0000773	Short ribs	2	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.		222
HP:0006711	HP:0000773	Short ribs	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent		284
HP:0006711	HP:0000773	Short ribs	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0006711	HP:0000882	Hypoplastic scapulae	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0006711	HP:0000773	Short ribs	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.		284
HP:0006711	HP:0000921	Missing ribs	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006711	HP:0000773	Short ribs	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0006711	HP:0006660	Aplastic clavicle	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0006711	HP:0000773	Short ribs	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0006711	HP:0000894	Short clavicles	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0006711	HP:0000773	Short ribs	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0006711	HP:0000773	Short ribs	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0006711	HP:0000773	Short ribs	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0006711	HP:0000882	Hypoplastic scapulae	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0006711	HP:0000921	Missing ribs	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0006711	HP:0000882	Hypoplastic scapulae	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0006711	HP:0000882	Hypoplastic scapulae	2	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0006711	HP:0000773	Short ribs	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.		304
HP:0006711	HP:0000773	Short ribs	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		304
HP:0006711	HP:0000773	Short ribs	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0006711	HP:0000773	Short ribs	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0006711	HP:0000773	Short ribs	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0006711	HP:0000894	Short clavicles	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0006711	HP:0000773	Short ribs	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0006711	HP:0000773	Short ribs	2	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0006711	HP:0006585	Congenital pseudoarthrosis of the clavicle	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0006711	HP:0006585	Congenital pseudoarthrosis of the clavicle	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0006711	HP:0000773	Short ribs	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0006711	HP:0000773	Short ribs	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0006711	HP:0000773	Short ribs	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0006711	HP:0000894	Short clavicles	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0006711	HP:0000921	Missing ribs	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0006711	HP:0000894	Short clavicles	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0006711	HP:0000882	Hypoplastic scapulae	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0006711	HP:0000894	Short clavicles	2	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.		175
HP:0006711	HP:0000894	Short clavicles	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0006711	HP:0000773	Short ribs	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0006711	HP:0000882	Hypoplastic scapulae	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0006711	HP:0000773	Short ribs	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0006711	HP:0000882	Hypoplastic scapulae	2	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0006711	HP:0000773	Short ribs	2	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0006711	HP:0006628	Absent sternal ossification	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0006711	HP:0006628	Absent sternal ossification	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0006711	HP:0006660	Aplastic clavicle	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0006711	HP:0000882	Hypoplastic scapulae	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0006711	HP:0000773	Short ribs	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0006711	HP:0000894	Short clavicles	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0006711	HP:0000921	Missing ribs	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0006711	HP:0000882	Hypoplastic scapulae	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0006711	HP:0000894	Short clavicles	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0006711	HP:0000894	Short clavicles	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0006711	HP:0000773	Short ribs	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0006711	HP:0000921	Missing ribs	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0006711	HP:0000921	Missing ribs	2	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional		3
HP:0006711	HP:0000921	Missing ribs	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0006711	HP:0006660	Aplastic clavicle	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0006711	HP:0000882	Hypoplastic scapulae	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0006711	HP:0000773	Short ribs	2	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.		240
HP:0006711	HP:0000773	Short ribs	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0006711	HP:0000879	Short sternum	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0006711	HP:0000773	Short ribs	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006711	HP:0000879	Short sternum	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006711	HP:0000773	Short ribs	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0006711	HP:0000921	Missing ribs	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0006711	HP:0000882	Hypoplastic scapulae	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0006711	HP:0000921	Missing ribs	2	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0006711	HP:0000921	Missing ribs	2	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.		10
HP:0006711	HP:0000921	Missing ribs	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0006711	HP:0000894	Short clavicles	2	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.		25
HP:0006711	HP:0000921	Missing ribs	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0006711	HP:0000773	Short ribs	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0006711	HP:0000894	Short clavicles	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0006711	HP:0000773	Short ribs	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0006711	HP:0000773	Short ribs	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	HP:0040283 - Occasional		148
HP:0006711	HP:0000773	Short ribs	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0006711	HP:0000773	Short ribs	2	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006711	HP:0000921	Missing ribs	2	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0006711	HP:0000773	Short ribs	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		65
HP:0006711	HP:0000773	Short ribs	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0006711	HP:0000773	Short ribs	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0006711	HP:0000882	Hypoplastic scapulae	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0006711	HP:0000773	Short ribs	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0006711	HP:0000773	Short ribs	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0006711	HP:0000921	Missing ribs	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0006711	HP:0000773	Short ribs	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0006711	HP:0000773	Short ribs	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0006711	HP:0006660	Aplastic clavicle	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0006711	HP:0000921	Missing ribs	2	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0006711	HP:0000879	Short sternum	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006711	HP:0000773	Short ribs	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0006711	HP:0000773	Short ribs	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0006711	HP:0000921	Missing ribs	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0006711	HP:0000894	Short clavicles	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0006711	HP:0000894	Short clavicles	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0006711	HP:0000894	Short clavicles	2	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0006711	HP:0000894	Short clavicles	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0006711	HP:0000894	Short clavicles	2	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0006711	HP:0000773	Short ribs	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0006711	HP:0000879	Short sternum	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0006711	HP:0000921	Missing ribs	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0000773	Short ribs	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0006711	HP:0000882	Hypoplastic scapulae	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0006711	HP:0000921	Missing ribs	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0000894	Short clavicles	2	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		45
HP:0006711	HP:0000894	Short clavicles	2	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0006711	HP:0000921	Missing ribs	2	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0006711	HP:0000773	Short ribs	2	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0006711	HP:0000894	Short clavicles	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0006711	HP:0000921	Missing ribs	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0006711	HP:0000773	Short ribs	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.		101
HP:0006711	HP:0000921	Missing ribs	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006711	HP:0000879	Short sternum	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0006711	HP:0000879	Short sternum	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0006711	HP:0000773	Short ribs	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0006711	HP:0000879	Short sternum	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0006711	HP:0000773	Short ribs	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0006711	HP:0000894	Short clavicles	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0006711	HP:0000882	Hypoplastic scapulae	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	HP:0040283 - Occasional		34
HP:0006711	HP:0006660	Aplastic clavicle	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0006711	HP:0000773	Short ribs	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0006711	HP:0006628	Absent sternal ossification	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0006711	HP:0006660	Aplastic clavicle	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0006711	HP:0006660	Aplastic clavicle	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0006711	HP:0006628	Absent sternal ossification	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0006711	HP:0000773	Short ribs	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0006711	HP:0000921	Missing ribs	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0006711	HP:0000773	Short ribs	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0006711	HP:0000879	Short sternum	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0006711	HP:0000882	Hypoplastic scapulae	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional		531
HP:0006711	HP:0000921	Missing ribs	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0006660	Aplastic clavicle	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent		36
HP:0006711	HP:0000773	Short ribs	2	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0006711	HP:0000882	Hypoplastic scapulae	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0006711	HP:0000773	Short ribs	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0006711	HP:0000894	Short clavicles	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0006711	HP:0000894	Short clavicles	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0006711	HP:0000773	Short ribs	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0006711	HP:0006638	Midclavicular aplasia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0006711	HP:0000921	Missing ribs	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0006711	HP:0000921	Missing ribs	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0006711	HP:0000921	Missing ribs	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0000882	Hypoplastic scapulae	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0006711	HP:0000773	Short ribs	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.		665
HP:0006711	HP:0000773	Short ribs	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.		40
HP:0006711	HP:0006660	Aplastic clavicle	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0006711	HP:0000894	Short clavicles	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0006711	HP:0006660	Aplastic clavicle	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0006711	HP:0000773	Short ribs	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0006711	HP:0000773	Short ribs	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0006711	HP:0000773	Short ribs	2	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0006711	HP:0000921	Missing ribs	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0006711	HP:0000879	Short sternum	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare		16
HP:0006711	HP:0000879	Short sternum	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	HP:0040283 - Occasional		16
HP:0006711	HP:0000921	Missing ribs	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0006711	HP:0000882	Hypoplastic scapulae	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	HP:0040283 - Occasional		69
HP:0006711	HP:0006660	Aplastic clavicle	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0006711	HP:0000921	Missing ribs	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0006711	HP:0000921	Missing ribs	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0006711	HP:0000921	Missing ribs	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0006711	HP:0000921	Missing ribs	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0006711	HP:0000894	Short clavicles	2	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0006711	HP:0000882	Hypoplastic scapulae	2	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0006711	HP:0000921	Missing ribs	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0006711	HP:0000773	Short ribs	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0006711	HP:0000882	Hypoplastic scapulae	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0006711	HP:0000894	Short clavicles	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent		90
HP:0006711	HP:0006660	Aplastic clavicle	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0006711	HP:0000882	Hypoplastic scapulae	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional		90
HP:0006711	HP:0000773	Short ribs	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0006711	HP:0000882	Hypoplastic scapulae	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0006711	HP:0000894	Short clavicles	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0006711	HP:0000894	Short clavicles	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0006711	HP:0006660	Aplastic clavicle	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional		86
HP:0006711	HP:0000882	Hypoplastic scapulae	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006711	HP:0000773	Short ribs	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006711	HP:0000894	Short clavicles	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006711	HP:0000921	Missing ribs	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0006711	HP:0000773	Short ribs	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0006711	HP:0000879	Short sternum	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0006711	HP:0000773	Short ribs	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0006711	HP:0000921	Missing ribs	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0006711	HP:0000921	Missing ribs	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0006711	HP:0000921	Missing ribs	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0006711	HP:0000773	Short ribs	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0006711	HP:0000773	Short ribs	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166
HP:0006711	HP:0000882	Hypoplastic scapulae	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0006711	HP:0000882	Hypoplastic scapulae	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0006711	HP:0000773	Short ribs	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0006711	HP:0000773	Short ribs	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0006711	HP:0000773	Short ribs	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0006711	HP:0000921	Missing ribs	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0006711	HP:0000921	Missing ribs	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0006711	HP:0000921	Missing ribs	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0006711	HP:0000921	Missing ribs	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0006711	HP:0000882	Hypoplastic scapulae	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0006711	HP:0000882	Hypoplastic scapulae	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0006711	HP:0000921	Missing ribs	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0006711	HP:0006628	Absent sternal ossification	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0006711	HP:0000921	Missing ribs	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0006711	HP:0000921	Missing ribs	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0006711	HP:0000894	Short clavicles	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0006711	HP:0000894	Short clavicles	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0006711	HP:0000921	Missing ribs	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0006711	HP:0000773	Short ribs	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.		124
HP:0006711	HP:0000773	Short ribs	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0006711	HP:0000921	Missing ribs	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0006711	HP:0000921	Missing ribs	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0006711	HP:0000882	Hypoplastic scapulae	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0006711	HP:0000882	Hypoplastic scapulae	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate		5
HP:0006711	HP:0000894	Short clavicles	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0006711	HP:0000882	Hypoplastic scapulae	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0006711	HP:0000894	Short clavicles	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0006711	HP:0000921	Missing ribs	2	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040283 - Occasional		19
HP:0006711	HP:0000921	Missing ribs	2	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.		19
HP:0006711	HP:0000879	Short sternum	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0006711	HP:0000921	Missing ribs	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0006711	HP:0000882	Hypoplastic scapulae	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0006711	HP:0000773	Short ribs	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0006711	HP:0000894	Short clavicles	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0006711	HP:0000773	Short ribs	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0006711	HP:0000773	Short ribs	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0006711	HP:0000894	Short clavicles	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0006711	HP:0000773	Short ribs	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0006711	HP:0000921	Missing ribs	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0006711	HP:0000773	Short ribs	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0006711	HP:0006628	Absent sternal ossification	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0006711	HP:0000921	Missing ribs	2	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional		111
HP:0006711	HP:0000921	Missing ribs	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0006711	HP:0000921	Missing ribs	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0006711	HP:0000773	Short ribs	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0006711	HP:0000773	Short ribs	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		136
HP:0006711	HP:0000773	Short ribs	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0006711	HP:0000882	Hypoplastic scapulae	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0006711	HP:0000921	Missing ribs	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent		12
HP:0006711	HP:0006585	Congenital pseudoarthrosis of the clavicle	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.		13
HP:0006711	HP:0000894	Short clavicles	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0006711	HP:0000894	Short clavicles	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0006711	HP:0000894	Short clavicles	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0006711	HP:0000894	Short clavicles	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0006711	HP:0006585	Congenital pseudoarthrosis of the clavicle	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0006711	HP:0000894	Short clavicles	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0006711	HP:0006631	Hypoplastic distal segments of scapulae	3	CL E G H
HP:0006711	HP:0030300	10 pairs of ribs	3	CL E G H
HP:0006711	HP:0000878	11 pairs of ribs	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0006711	HP:0000878	11 pairs of ribs	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		5
HP:0006711	HP:0000878	11 pairs of ribs	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0006711	HP:0000878	11 pairs of ribs	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0006711	HP:0000878	11 pairs of ribs	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		5
HP:0006711	HP:0000878	11 pairs of ribs	3	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0006711	HP:0000878	11 pairs of ribs	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0006711	HP:0006608	Midclavicular hypoplasia	3	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0006711	HP:0000878	11 pairs of ribs	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0006711	HP:0000878	11 pairs of ribs	3	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.		161
HP:0006711	HP:0000878	11 pairs of ribs	3	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	HP:0040283 - Occasional		146
HP:0006711	HP:0000878	11 pairs of ribs	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		165
HP:0006711	HP:0000878	11 pairs of ribs	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006711	HP:0006668	Twelfth rib hypoplasia	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0006711	HP:0000878	11 pairs of ribs	3	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0006711	HP:0006584	Small abnormally formed scapulae	3	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0006711	HP:0006584	Small abnormally formed scapulae	3	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0006711	HP:0000878	11 pairs of ribs	3	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0006711	HP:0000878	11 pairs of ribs	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0006711	HP:0000878	11 pairs of ribs	3	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0006711	HP:0000878	11 pairs of ribs	3	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	HP:0040283 - Occasional		2
HP:0006711	HP:0000878	11 pairs of ribs	3	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0006711	HP:0000878	11 pairs of ribs	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0006711	HP:0000878	11 pairs of ribs	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0006711	HP:0006668	Twelfth rib hypoplasia	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0006711	HP:0000878	11 pairs of ribs	3	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0006711	HP:0000878	11 pairs of ribs	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0006711	HP:0006657	Hypoplasia of first ribs	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0006711	HP:0000878	11 pairs of ribs	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006711	HP:0000878	11 pairs of ribs	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006711	HP:0000878	11 pairs of ribs	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0006711	HP:0000878	11 pairs of ribs	3	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	HP:0040284 - Very rare
HP:0006711	HP:0000878	11 pairs of ribs	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006711	HP:0006608	Midclavicular hypoplasia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0006711	HP:0000878	11 pairs of ribs	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0006711	HP:0000878	11 pairs of ribs	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0006711	HP:0000878	11 pairs of ribs	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006711	HP:0006608	Midclavicular hypoplasia	3	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0006711	HP:0000878	11 pairs of ribs	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0006711	HP:0000878	11 pairs of ribs	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0006711	HP:0000878	11 pairs of ribs	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0006711	HP:0000878	11 pairs of ribs	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0006711	HP:0000878	11 pairs of ribs	3	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0006711	HP:0006657	Hypoplasia of first ribs	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0006711	HP:0006657	Hypoplasia of first ribs	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0006711	HP:0000878	11 pairs of ribs	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0006711	HP:0000878	11 pairs of ribs	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0006711	HP:0000878	11 pairs of ribs	3	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional		33
HP:0006711	HP:0006584	Small abnormally formed scapulae	3	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0006711	HP:0000878	11 pairs of ribs	3	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0006711	HP:0000878	11 pairs of ribs	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0006711	HP:0000878	11 pairs of ribs	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0006711	HP:0000878	11 pairs of ribs	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0006711	HP:0000878	11 pairs of ribs	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0006711	HP:0000878	11 pairs of ribs	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		271
HP:0006711	HP:0000878	11 pairs of ribs	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0006711	HP:0000878	11 pairs of ribs	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0006711	HP:0000878	11 pairs of ribs	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional

Genes (185) :ACTB ALDH1A2 ALG12 ALPL ALX4 ARID1B ATP6V1B2 ATP7A ATR B3GALT6 B3GAT3 B4GALT7 B4GAT1 BCOR BGN BMP2 BMPER BMPR1A BUB1B C2CD3 CASZ1 CCDC22 CDC42BPB CDC45 CDC6 CDT1 CENPJ CEP120 CEP152 CHD4 CHST3 COL11A1 COL11A2 COL2A1 CPLANE1 CSPP1 CTSK CUL7 DCHS1 DDR2 DDRGK1 DLK1 DNMT3A DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EFNB1 ERMARD EVC EVC2 EZH2 FAT4 FBN1 FBXL3 FGFR1 FGFR2 FGFR3 FIG4 FLI1 FLNA FLNB FRAS1 FUZ GABRD GMNN GNPTAB GPC3 GPC4 GPX4 GSC HDAC6 HES7 HNRNPR HOXD13 HSPG2 IDUA IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IHH INPPL1 INTU KCNAB2 KIAA0586 KMT2A KYNU LAMA5 LBR LEMD2 LMNA LMX1B LRP2 LUZP1 MEG3 MMP23B MSX2 MTX2 MYF5 NAA10 NALCN NEK1 NFASC NFIX NIPBL NKX3-2 NOG NSDHL ORC1 ORC4 ORC6 PAICS PAM16 PCGF2 PCNT PDPN PIGL PLCB3 POR PORCN PRDM16 PRIM1 PRKCZ PSMB8 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PUF60 RBM10 RERE RIPK4 RNU4ATAC ROR2 RPS19 RRAS2 RSPO2 RTL1 RUNX2 SALL4 SCARF2 SCUBE3 SETBP1 SF3B4 SIX6 SKI SLC26A2 SLC35D1 SMO SNRPB SOX2 SOX9 SPEN SRCAP SUFU TAPT1 TBC1D24 TBCK TBX15 TBX3 TBX5 TBX6 TMEM231 TOR1A TRIP11 TRPV4 TRPV6 TWIST1 UBA1 UBE4B VAC14 VANGL1 WASHC5 WDR35 WNT3 WNT7A XYLT1 ZMPSTE24

Diseases (194) :ORPHA:79107 OMIM:607371 OMIM:620025 OMIM:607143 OMIM:241500 ORPHA:60015 OMIM:135900 ORPHA:79500 ORPHA:198 OMIM:304150 OMIM:210600 OMIM:271640 OMIM:245600 OMIM:130070 OMIM:615287 OMIM:309800 OMIM:300106 OMIM:617877 OMIM:608022 ORPHA:66637 ORPHA:79076 OMIM:257300 OMIM:615948 ORPHA:1606 ORPHA:7 OMIM:619841 ORPHA:2554 OMIM:613676 OMIM:616300 OMIM:613823 OMIM:617159 ORPHA:440354 ORPHA:2021 OMIM:228520 OMIM:614524 ORPHA:93296 OMIM:200610 ORPHA:85166 OMIM:151210 OMIM:277170 ORPHA:397715 OMIM:265800 OMIM:273750 OMIM:601390 OMIM:271665 OMIM:602557 ORPHA:96334 OMIM:618724 OMIM:223800 OMIM:607326 OMIM:613091 ORPHA:93271 OMIM:615503 OMIM:617088 OMIM:617405 ORPHA:1520 OMIM:304110 ORPHA:75857 OMIM:225500 OMIM:277590 OMIM:615546 ORPHA:2462 OMIM:606220 OMIM:166250 OMIM:614592 ORPHA:313855 OMIM:100800 OMIM:187600 OMIM:187601 ORPHA:3472 OMIM:216340 ORPHA:2308 OMIM:309350 ORPHA:2484 OMIM:304120 OMIM:108720 OMIM:219000 ORPHA:3027 OMIM:252500 OMIM:252600 OMIM:312870 OMIM:250220 OMIM:602471 OMIM:300863 OMIM:613686 OMIM:620073 OMIM:113300 ORPHA:1865 OMIM:607014 OMIM:218330 OMIM:266920 OMIM:615630 OMIM:617866 OMIM:617895 OMIM:607778 ORPHA:3144 OMIM:617925 OMIM:616546 ORPHA:319182 OMIM:617661 OMIM:620076 OMIM:215140 OMIM:619322 ORPHA:740 OMIM:212112 OMIM:248370 ORPHA:90153 ORPHA:1662 OMIM:619793 OMIM:161200 OMIM:222448 OMIM:168550 OMIM:618155 OMIM:616266 OMIM:263520 OMIM:618356 OMIM:602535 OMIM:122470 OMIM:613330 OMIM:186500 OMIM:308050 OMIM:224690 OMIM:613803 OMIM:619859 OMIM:613320 OMIM:618371 OMIM:210720 ORPHA:3474 OMIM:618961 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:620005 OMIM:256040 OMIM:109400 ORPHA:2658 ORPHA:50945 OMIM:215045 OMIM:156400 OMIM:151100 ORPHA:508498 OMIM:311900 ORPHA:2886 OMIM:263650 ORPHA:2636 OMIM:210710 OMIM:268310 OMIM:105650 OMIM:618624 OMIM:618022 ORPHA:3301 ORPHA:1452 OMIM:119600 OMIM:147750 ORPHA:2307 OMIM:600920 OMIM:619184 OMIM:269150 OMIM:154400 OMIM:206900 OMIM:600972 ORPHA:56304 OMIM:269250 OMIM:241800 OMIM:117650 ORPHA:77298 ORPHA:140 OMIM:114290 ORPHA:2044 OMIM:136140 OMIM:616897 ORPHA:488632 OMIM:260660 ORPHA:93333 OMIM:181450 OMIM:142900 ORPHA:1797 OMIM:122600 ORPHA:2752 OMIM:618947 OMIM:200600 OMIM:156530 OMIM:618188 OMIM:617746 ORPHA:1145 OMIM:220210 OMIM:613610 OMIM:614091 OMIM:276820 OMIM:615777 ORPHA:370930 ORPHA:90154 OMIM:608612 OMIM:275210

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

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