PedAM

Pediatric Disease Annotations & Medicines


	achondroplasia

Disease ID	11
Disease	achondroplasia
Definition	An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Synonym	ach achondroplasia (disorder) achondroplasia [disease/finding] achondroplasias achondroplastic dwarf achondroplastic dwarfism achondroplastic physique achondroplastic physique (finding) chondrodystrophia chondrodystrophia fetalis chondrodystrophia foetalis congenital osteosclerosis dwarfism, achondroplastic osteosclerosis congenita physiologic dwarfism
Orphanet	ORPHANET:15
OMIM	OMIM:100800
DOID	DOID:4480
ICD10	ICD10CM:Q77.4
UMLS	C0001080
MeSH	D000130
SNOMED-CT	SNOMEDCT_US_2016_09_01:86268005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0037944 \| spinal stenosis \| 3 C0020255 \| hydrocephalus \| 2 C0010278 \| craniosynostosis \| 1 C0030486 \| paraplegia \| 1 C0022821 \| kyphosis \| 1 C0022578 \| keratoconus \| 1 C0035204 \| respiratory disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) FGFR3 \| 2261 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1277 \| COL1A1 \| infer 2261 \| FGFR3 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:110) 25776 \| CBY1 \| DISEASES 49 \| ACR \| DISEASES 1311 \| COMP \| DISEASES 5961 \| PRPH2 \| DISEASES 2690 \| GHR \| DISEASES 4488 \| MSX2 \| DISEASES 7291 \| TWIST1 \| DISEASES 1300 \| COL10A1 \| DISEASES 56269 \| IRGC \| DISEASES 1026 \| CDKN1A \| DISEASES 6662 \| SOX9 \| DISEASES 3425 \| IDUA \| DISEASES 1603 \| DAD1 \| DISEASES 91107 \| TRIM47 \| DISEASES 325 \| APCS \| DISEASES 10955 \| SERINC3 \| DISEASES 80326 \| WNT10A \| DISEASES 10913 \| EDAR \| DISEASES 23314 \| SATB2 \| DISEASES 59341 \| TRPV4 \| DISEASES 90 \| ACVR1 \| DISEASES 867 \| CBL \| DISEASES 2247 \| FGF2 \| DISEASES 53834 \| FGFRL1 \| DISEASES 2121 \| EVC \| DISEASES 10371 \| SEMA3A \| DISEASES 3373 \| HYAL1 \| DISEASES 2588 \| GALNS \| DISEASES 1404 \| HAPLN1 \| DISEASES 8817 \| FGF18 \| DISEASES 4103 \| MAGEA4 \| DISEASES 5741 \| PTH \| DISEASES 56172 \| ANKH \| DISEASES 1836 \| SLC26A2 \| DISEASES 6777 \| STAT5B \| DISEASES 4880 \| NPPC \| DISEASES 3549 \| IHH \| DISEASES 10085 \| EDIL3 \| DISEASES 161742 \| SPRED1 \| DISEASES 10818 \| FRS2 \| DISEASES 7083 \| TK1 \| DISEASES 5604 \| MAP2K1 \| DISEASES 3479 \| IGF1 \| DISEASES 2688 \| GH1 \| DISEASES 64755 \| C16orf58 \| DISEASES 5745 \| PTH1R \| DISEASES 55553 \| SOX6 \| DISEASES 2200 \| FBN1 \| DISEASES 2185 \| PTK2B \| DISEASES 2248 \| FGF3 \| DISEASES 9456 \| HOMER1 \| DISEASES 128178 \| EDARADD \| DISEASES 84324 \| SARNP \| DISEASES 2246 \| FGF1 \| DISEASES 445329 \| SULT1A4 \| DISEASES 2261 \| FGFR3 \| DISEASES 4882 \| NPR2 \| DISEASES 6776 \| STAT5A \| DISEASES 1299 \| COL9A3 \| DISEASES 132884 \| EVC2 \| DISEASES 2305 \| FOXM1 \| DISEASES 3716 \| JAK1 \| DISEASES 6818 \| SULT1A3 \| DISEASES 10252 \| SPRY1 \| DISEASES 57492 \| ARID1B \| DISEASES 9158 \| FIBP \| DISEASES 6677 \| SPAM1 \| DISEASES 2331 \| FMOD \| DISEASES 200734 \| SPRED2 \| DISEASES 987 \| LRBA \| DISEASES 50485 \| SMARCAL1 \| DISEASES 4763 \| NF1 \| DISEASES 6772 \| STAT1 \| DISEASES 57154 \| SMURF1 \| DISEASES 343035 \| RD3 \| DISEASES 4921 \| DDR2 \| DISEASES 1301 \| COL11A1 \| DISEASES 2258 \| FGF13 \| DISEASES 1298 \| COL9A2 \| DISEASES 656 \| BMP8B \| DISEASES 4146 \| MATN1 \| DISEASES 1302 \| COL11A2 \| DISEASES 10253 \| SPRY2 \| DISEASES 3980 \| LIG3 \| DISEASES 5251 \| PHEX \| DISEASES 1280 \| COL2A1 \| DISEASES 11168 \| PSIP1 \| DISEASES 3486 \| IGFBP3 \| DISEASES 415 \| ARSE \| DISEASES 6473 \| SHOX \| DISEASES 2254 \| FGF9 \| DISEASES 4487 \| MSX1 \| DISEASES 7784 \| ZP3 \| DISEASES 7227 \| TRPS1 \| DISEASES 5744 \| PTHLH \| DISEASES 2887 \| GRB10 \| DISEASES 4148 \| MATN3 \| DISEASES 55120 \| FANCL \| DISEASES 176 \| ACAN \| DISEASES 6399 \| TRAPPC2 \| DISEASES 2260 \| FGFR1 \| DISEASES 6660 \| SOX5 \| DISEASES 118460 \| EXOSC6 \| DISEASES 64084 \| CLSTN2 \| DISEASES 2263 \| FGFR2 \| DISEASES 9140 \| ATG12 \| DISEASES 142678 \| MIB2 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 6023 \| RMRP \| DISEASES 100038246 \| TLX1NB \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) FGFR3 \| 4p16.3

Disease ID	11
Disease	achondroplasia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:43) HP:0002808 \| Kyphosis HP:0000389 \| Chronic otitis media HP:0003312 \| Abnormal form of the vertebral bodies HP:0000689 \| Dental malocclusion HP:0003307 \| Hyperlordosis HP:0002104 \| Apnea HP:0000774 \| Narrow chest HP:0005692 \| Joint hyperflexibility HP:0002870 \| Obstructive sleep apnea HP:0006487 \| Bowing of the long bones HP:0000678 \| Dental crowding HP:0000238 \| Hydrocephalus HP:0003042 \| Elbow dislocation HP:0002867 \| Abnormality of the ilium HP:0003416 \| Spinal canal stenosis HP:0001260 \| Dysarthria HP:0001252 \| Muscular hypotonia HP:0000956 \| Acanthosis nigricans HP:0001513 \| Obesity HP:0000405 \| Conductive hearing impairment HP:0002007 \| Frontal bossing HP:0001645 \| Sudden cardiac death HP:0011800 \| Midface retrusion HP:0100818 \| Long thorax HP:0005019 \| Diaphyseal thickening HP:0005280 \| Depressed nasal bridge HP:0000256 \| Macrocephaly HP:0000975 \| Hyperhidrosis HP:0002167 \| Neurological speech impairment HP:0002645 \| Wormian bones HP:0008873 \| Disproportionate short-limb short stature HP:0008921 \| Neonatal short-limb short stature HP:0001511 \| Intrauterine growth retardation HP:0002119 \| Ventriculomegaly HP:0002970 \| Genu varum HP:0008803 \| Narrow sacroiliac notch HP:0000772 \| Abnormality of the ribs HP:0000463 \| Anteverted nares HP:0001387 \| Joint stiffness HP:0001522 \| Death in infancy HP:0000944 \| Abnormality of the metaphyses HP:0008905 \| Rhizomelia HP:0009811 \| Abnormality of the elbow
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0001263 \| Developmental retardation \| 6 HP:0003416 \| Spinal canal stenosis \| 4 HP:0004322 \| Stature below 3rd percentile \| 3 HP:0000238 \| Nonsyndromal hydrocephalus \| 2 HP:0002025 \| Narrowing of anal opening \| 1 HP:0009826 \| limb shortening \| 1 HP:0000677 \| Failure of development of more than six teeth \| 1 HP:0010550 \| Paraplegia \| 1 HP:0000563 \| Conical cornea \| 1 HP:0001380 \| Joint ligamentous laxity \| 1 HP:0003498 \| Disproportionate short stature \| 1 HP:0030038 \| Enchondroma \| 1 HP:0002808 \| Gibbus deformity \| 1 HP:0003508 \| Short stature, proportionate \| 1 HP:0004610 \| Narrow lumbar spinal canal \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0008454 \| Rounded lower back \| 1 HP:0005619 \| Thoracolumbar kyphosis \| 1 HP:0004565 \| Severe platyspondyly \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1

Disease ID	11
Disease	achondroplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:39) C2632116 \| stenosis C2364324 \| increased intracranial pressure C2029884 \| hearing loss C2018359 \| lumbar canal stenosis C1963220 \| pulmonary hypertension C1963185 \| obesity C1963137 \| hydrocephalus C1956346 \| coronary artery disease C1660797 \| urological problem C1290147 \| lumbar spine disease C0852866 \| cervical cord compression C0752303 \| urological manifestations C0520679 \| obstructive sleep apnea C0409325 \| patellofemoral disorders C0376293 \| stigmata C0311338 \| fundus albipunctatus C0270790 \| quadriparesis C0270680 \| brainstem compression C0266798 \| cord compression C0265673 \| kyphosis C0235031 \| neurological symptoms C0221166 \| paraparesis C0158242 \| cervical spinal cord compression C0155288 \| papilledema C0149645 \| cervical myelopathy C0080178 \| spinal dysraphism C0040997 \| trigeminal neuralgia C0039145 \| syringomyelia C0037944 \| spinal stenosis C0037926 \| spinal cord compression C0030486 \| paraplegia C0029166 \| oral manifestations C0027765 \| neurological disorders C0026269 \| mitral valve stenosis C0022680 \| polycystic kidney disease C0019080 \| hemorrhage C0013336 \| dwarfism C0013261 \| duane retraction syndrome C0007815 \| cerebrospinal fluid rhinorrhea
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0009814 \| stenosis \| 7 C0037944 \| spinal stenosis \| 3 C0020255 \| hydrocephalus \| 2 C0030486 \| paraplegia \| 1 C0013336 \| dwarfism \| 1 C0022821 \| kyphosis \| 1 C0029166 \| oral manifestations \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:42)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913105	10377013	2261	FGFR3	umls:C0001080	BeFree	We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) [Tavormina et al., 1999: Am.	0.621035659	1999	FGFR3	4	1806163	A	C,T
rs121913105	10053006	2261	FGFR3	umls:C0001080	BeFree	We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.	0.621035659	1999	FGFR3	4	1806163	A	C,T
rs121913114	NA	2261	FGFR3	umls:C0001080	CLINVAR	NA	0.621035659	NA	FGFR3	4	1801930	A	T
rs121913479	10587515	2261	FGFR3	umls:C0001080	BeFree	Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.	0.621035659	1999	FGFR3	4	1804362	G	T
rs121918495	9780920	2261	FGFR3	umls:C0001080	BeFree	Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiffer syndrome, and a G380R mutation in the FGFR3 gene in the patient with achondroplasia.	0.621035659	1998	FGFR2	10	121517382	T	G
rs267606809	NA	2261	FGFR3	umls:C0001080	CLINVAR	NA	0.621035659	NA	FGFR3	4	1804384	T	G
rs28931614	NA	2261	FGFR3	umls:C0001080	CLINVAR	NA	0.621035659	NA	FGFR3	4	1804392	G	A,C
rs28931614	10979354	2261	FGFR3	umls:C0001080	BeFree	A recurrent glycine to arginine mutation at codon 380 (G380R) in the transmembrane domain of the fibroblast growth factor receptor 3 gene was found to cause achondroplasia among different populations.	0.621035659	2000	FGFR3	4	1804392	G	A,C
rs28931614	20963478	2261	FGFR3	umls:C0001080	BeFree	We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia.	0.621035659	2011	FGFR3	4	1804392	G	A,C
rs28931614	9780920	2261	FGFR3	umls:C0001080	BeFree	Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiffer syndrome, and a G380R mutation in the FGFR3 gene in the patient with achondroplasia.	0.621035659	1998	FGFR3	4	1804392	G	A,C
rs28931614	10360393	2261	FGFR3	umls:C0001080	BeFree	The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.	0.621035659	1999	FGFR3	4	1804392	G	A,C
rs28931614	12921294	2261	FGFR3	umls:C0001080	BeFree	Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.	0.621035659	2003	FGFR3	4	1804392	G	A,C
rs28931614	18199430	2261	FGFR3	umls:C0001080	BeFree	Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.	0.621035659	2008	FGFR3	4	1804392	G	A,C
rs28931614	10881785	2261	FGFR3	umls:C0001080	BeFree	FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation.	0.621035659	2000	FGFR3	4	1804392	G	A,C
rs28931614	10360392	2261	FGFR3	umls:C0001080	BeFree	The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene.	0.621035659	1999	FGFR3	4	1804392	G	A,C
rs28931614	10611230	2261	FGFR3	umls:C0001080	UNIPROT	We propose that the achondroplasia mutation G380R uncouples ligand-mediated receptor activation from down-regulation at a site where the levels and kinetics of FGFR3 signals are crucial for chondrocyte maturation and bone formation.	0.621035659	2000	FGFR3	4	1804392	G	A,C
rs28931614	11556601	2261	FGFR3	umls:C0001080	BeFree	A glycine to arginine mutation at codon 380 (G380R) of the fibroblast growth factor receptor 3 gene (FGFR3) was found to be the most common cause of achondroplasia in various populations.	0.621035659	2001	FGFR3	4	1804392	G	A,C
rs28931614	22339077	2261	FGFR3	umls:C0001080	BeFree	Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.	0.621035659	2012	FGFR3	4	1804392	G	A,C
rs28931614	9001669	2261	FGFR3	umls:C0001080	BeFree	Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.	0.621035659	1996	FGFR3	4	1804392	G	A,C
rs28931614	12297284	2261	FGFR3	umls:C0001080	BeFree	Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia.	0.621035659	2002	FGFR3	4	1804392	G	A,C
rs28931614	17466614	2261	FGFR3	umls:C0001080	BeFree	Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondroplasia, induces apoptosis in the chondrogenic cell line ATDC5.	0.621035659	2007	FGFR3	4	1804392	G	A,C
rs28931614	21739570	2261	FGFR3	umls:C0001080	BeFree	The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified.	0.621035659	2011	FGFR3	4	1804392	G	A,C
rs28931614	8682509	2261	FGFR3	umls:C0001080	BeFree	Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations.	0.621035659	1996	FGFR3	4	1804392	G	A,C
rs28931614	16475234	2261	FGFR3	umls:C0001080	BeFree	The most common G380R FGFR3 achondroplasia mutation was detected.	0.621035659	2006	FGFR3	4	1804392	G	A,C
rs28931614	18196933	2261	FGFR3	umls:C0001080	BeFree	Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively.	0.621035659	2008	FGFR3	4	1804392	G	A,C
rs28931614	23949953	2261	FGFR3	umls:C0001080	BeFree	The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected.	0.621035659	2013	FGFR3	4	1804392	G	A,C
rs28931614	11518810	2261	FGFR3	umls:C0001080	BeFree	A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a knock-in approach using gene targeting leading to a constitutively active receptor.	0.621035659	2001	FGFR3	4	1804392	G	A,C
rs28931614	23056398	2261	FGFR3	umls:C0001080	BeFree	The Gly380Arg mutation in FGFR3 is the genetic cause for achondroplasia (ACH), the most common form of human dwarfism.	0.621035659	2012	FGFR3	4	1804392	G	A,C
rs28931614	7847369	2261	FGFR3	umls:C0001080	BeFree	Achondroplasia is defined by recurrent G380R mutations of FGFR3.	0.621035659	1995	FGFR3	4	1804392	G	A,C
rs28931614	17683901	2261	FGFR3	umls:C0001080	BeFree	An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.	0.621035659	2008	FGFR3	4	1804392	G	A,C
rs28931614	9853502	2261	FGFR3	umls:C0001080	BeFree	To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients with achondroplasia and the G380R mutation of FGFR3 and eight with hypochondroplasia and the N540K mutation.	0.621035659	1998	FGFR3	4	1804392	G	A,C
rs28931614	16434832	2261	FGFR3	umls:C0001080	BeFree	Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.	0.621035659	2006	FGFR3	4	1804392	G	A,C
rs28931614	11472579	2261	FGFR3	umls:C0001080	BeFree	Achondroplasia is a skeletal dysplasia caused by substitution of arginine for glycine at codon 380 (G380R) mutation of the fibroblast growth factor receptor 3.	0.621035659	2001	FGFR3	4	1804392	G	A,C
rs28931614	10102070	2261	FGFR3	umls:C0001080	BeFree	In the present study, 70 of 75 Japanese patients with achondroplasia were found to have a G1138A mutation in FGFR3, and two patients had a G1138C mutation.	0.621035659	1999	FGFR3	4	1804392	G	A,C
rs28931615	11426459	2261	FGFR3	umls:C0001080	BeFree	Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.	0.621035659	2001	FGFR3	4	1804426	C	A
rs28933068	9853502	2261	FGFR3	umls:C0001080	BeFree	To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients with achondroplasia and the G380R mutation of FGFR3 and eight with hypochondroplasia and the N540K mutation.	0.621035659	1998	FGFR3	4	1805644	C	A,G,T
rs28933068	10360392	2261	FGFR3	umls:C0001080	BeFree	The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene.	0.621035659	1999	FGFR3	4	1805644	C	A,G,T
rs28933068	10360393	2261	FGFR3	umls:C0001080	BeFree	The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.	0.621035659	1999	FGFR3	4	1805644	C	A,G,T
rs386626606	11518810	2261	FGFR3	umls:C0001080	BeFree	A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a knock-in approach using gene targeting leading to a constitutively active receptor.	0.621035659	2001	NA	NA	NA	NA	NA
rs75790268	NA	2261	FGFR3	umls:C0001080	CLINVAR	NA	0.621035659	NA	FGFR3	4	1804377	G	T
rs75790268	11518810	2261	FGFR3	umls:C0001080	BeFree	A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a knock-in approach using gene targeting leading to a constitutively active receptor.	0.621035659	2001	FGFR3	4	1804377	G	T
rs78311289	12297284	2261	FGFR3	umls:C0001080	BeFree	Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia.	0.621035659	2002	FGFR3	4	1806162	A	C,G

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000113	Polycystic kidney dysplasia	MP:0003606	kidney failure;HP:0002092	Pulmonary hypertension

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000113	Polycystic kidney dysplasia	MP:0011250	abdominal situs ambiguus;HP:0001085	Papilledema

Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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