eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	achondroplasia

Disease ID	4
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:8) C0020255 \| hydrocephalus \| 2 C0037944 \| spinal stenosis \| 2 C0022821 \| kyphosis \| 2 C0010278 \| craniosynostosis \| 1 C0030486 \| paraplegia \| 1 C0022578 \| keratoconus \| 1 C0035204 \| respiratory disease \| 1 C0001173 \| gastric outlet obstruction \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2261 \| FGFR3 \| GHR;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1277 \| COL1A1 \| CIPHER 2261 \| FGFR3 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:65) 176 \| ACAN \| 1.622 \| DISEASES 57492 \| ARID1B \| 1.429 \| DISEASES 415 \| ARSE \| 1.99 \| DISEASES 9140 \| ATG12 \| 1.287 \| DISEASES 656 \| BMP8B \| 1.805 \| DISEASES 64084 \| CLSTN2 \| 1.772 \| DISEASES 1301 \| COL11A1 \| 2.633 \| DISEASES 1302 \| COL11A2 \| 2.383 \| DISEASES 1280 \| COL2A1 \| 3.791 \| DISEASES 1298 \| COL9A2 \| 2.712 \| DISEASES 1299 \| COL9A3 \| 1.919 \| DISEASES 4921 \| DDR2 \| 1.231 \| DISEASES 128178 \| EDARADD \| 2.027 \| DISEASES 132884 \| EVC2 \| 1.337 \| DISEASES 118460 \| EXOSC6 \| 3.169 \| DISEASES 55120 \| FANCL \| 1.079 \| DISEASES 2200 \| FBN1 \| 1.302 \| DISEASES 2246 \| FGF1 \| 3.425 \| DISEASES 2258 \| FGF13 \| 3.182 \| DISEASES 2248 \| FGF3 \| 3.067 \| DISEASES 2254 \| FGF9 \| 4.014 \| DISEASES 2260 \| FGFR1 \| 3.344 \| DISEASES 2263 \| FGFR2 \| 4.216 \| DISEASES 2261 \| FGFR3 \| 7.97 \| DISEASES 9158 \| FIBP \| 3.079 \| DISEASES 2331 \| FMOD \| 1.291 \| DISEASES 2305 \| FOXM1 \| 3.105 \| DISEASES 2887 \| GRB10 \| 1.555 \| DISEASES 9456 \| HOMER1 \| 1.521 \| DISEASES 3486 \| IGFBP3 \| 1.461 \| DISEASES 3716 \| JAK1 \| 1.152 \| DISEASES 3980 \| LIG3 \| 1.733 \| DISEASES 987 \| LRBA \| 1.005 \| DISEASES 4146 \| MATN1 \| 1.641 \| DISEASES 4148 \| MATN3 \| 1.286 \| DISEASES 142678 \| MIB2 \| 2.388 \| DISEASES 4487 \| MSX1 \| 1.064 \| DISEASES 4763 \| NF1 \| 1.33 \| DISEASES 4882 \| NPR2 \| 2.662 \| DISEASES 5251 \| PHEX \| 1.01 \| DISEASES 11168 \| PSIP1 \| 1.271 \| DISEASES 5745 \| PTH1R \| 2.739 \| DISEASES 5744 \| PTHLH \| 3.317 \| DISEASES 2185 \| PTK2B \| 1.776 \| DISEASES 343035 \| RD3 \| 1.704 \| DISEASES 6023 \| RMRP \| 2.538 \| DISEASES 84324 \| SARNP \| 2.418 \| DISEASES 6473 \| SHOX \| 3.207 \| DISEASES 50485 \| SMARCAL1 \| 1.555 \| DISEASES 57154 \| SMURF1 \| 1.645 \| DISEASES 6660 \| SOX5 \| 1.605 \| DISEASES 55553 \| SOX6 \| 1.538 \| DISEASES 6677 \| SPAM1 \| 1.593 \| DISEASES 200734 \| SPRED2 \| 2.419 \| DISEASES 10252 \| SPRY1 \| 1.336 \| DISEASES 10253 \| SPRY2 \| 1.514 \| DISEASES 6772 \| STAT1 \| 3.177 \| DISEASES 6776 \| STAT5A \| 1.755 \| DISEASES 6818 \| SULT1A3 \| 2.342 \| DISEASES 445329 \| SULT1A4 \| 2.367 \| DISEASES 100038246 \| TLX1NB \| 4.707 \| DISEASES 84000 \| TMPRSS13 \| 1.978 \| DISEASES 6399 \| TRAPPC2 \| 2.415 \| DISEASES 7227 \| TRPS1 \| 1.545 \| DISEASES 7784 \| ZP3 \| 1.679 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) FGFR3 \| 4p16.3

Disease ID	4
Disease	achondroplasia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:43) HP:0008873 \| Disproportionate short-limb short stature HP:0011800 \| Midface retrusion HP:0000944 \| Abnormality of the metaphyses HP:0006487 \| Bowing of the long bones HP:0002119 \| Ventriculomegaly HP:0100818 \| Long thorax HP:0005019 \| Diaphyseal thickening HP:0000238 \| Hydrocephalus HP:0000678 \| Dental crowding HP:0002645 \| Wormian bones HP:0005280 \| Depressed nasal bridge HP:0001260 \| Dysarthria HP:0002870 \| Obstructive sleep apnea HP:0002970 \| Genu varum HP:0008921 \| Neonatal short-limb short stature HP:0002007 \| Frontal bossing HP:0003307 \| Hyperlordosis HP:0002167 \| Neurological speech impairment HP:0005692 \| Joint hyperflexibility HP:0001522 \| Death in infancy HP:0000774 \| Narrow chest HP:0001511 \| Intrauterine growth retardation HP:0000772 \| Abnormality of the ribs HP:0000975 \| Hyperhidrosis HP:0003312 \| Abnormal form of the vertebral bodies HP:0000256 \| Macrocephaly HP:0008803 \| Narrow sacroiliac notch HP:0003042 \| Elbow dislocation HP:0000389 \| Chronic otitis media HP:0002808 \| Kyphosis HP:0003416 \| Spinal canal stenosis HP:0000405 \| Conductive hearing impairment HP:0009811 \| Abnormality of the elbow HP:0002867 \| Abnormality of the ilium HP:0001513 \| Obesity HP:0001645 \| Sudden cardiac death HP:0001387 \| Joint stiffness HP:0000463 \| Anteverted nares HP:0001252 \| Muscular hypotonia HP:0000956 \| Acanthosis nigricans HP:0000689 \| Dental malocclusion HP:0002104 \| Apnea HP:0008905 \| Rhizomelia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:22) HP:0001263 \| Developmental retardation \| 6 HP:0003416 \| Spinal canal stenosis \| 4 HP:0004322 \| Stature below 3rd percentile \| 3 HP:0000238 \| Nonsyndromal hydrocephalus \| 2 HP:0002808 \| Gibbus deformity \| 2 HP:0030038 \| Enchondroma \| 1 HP:0004565 \| Severe platyspondyly \| 1 HP:0004610 \| Narrow lumbar spinal canal \| 1 HP:0003508 \| Short stature, proportionate \| 1 HP:0000563 \| Conical cornea \| 1 HP:0009826 \| limb shortening \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0001380 \| Joint ligamentous laxity \| 1 HP:0003498 \| Disproportionate short stature \| 1 HP:0008454 \| Rounded lower back \| 1 HP:0000677 \| Failure of development of more than six teeth \| 1 HP:0002948 \| Fusion of vertebral bodies \| 1 HP:0010550 \| Paraplegia \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0002025 \| Narrowing of anal opening \| 1 HP:0005619 \| Thoracolumbar kyphosis \| 1 HP:0002999 \| Dislocated kneecap \| 1

Disease ID	4
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 C0029166 \| oral manifestations \| 1 C0013336 \| dwarfism \| 1 C0022821 \| kyphosis \| 1

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

Text Mining Genotype(Total 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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:20)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000689	Dental malocclusion	MP:0000120	malocclusion	perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth
HP:0009811	Abnormality of the elbow	MP:0008158	increased diameter of femur	increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge
HP:0002645	Wormian bones	MP:0008915	fused carpal bones	anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together
HP:0006487	Bowing of the long bones	MP:0013621	decreased internal diameter of femur	reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0001511	Intrauterine growth retardation	MP:0011109	lethality throughout fetal growth and development, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0001387	Joint stiffness	MP:0003098	decreased tendon stiffness	reduced ability of tendon to maintain tensile strength and load
HP:0000389	Chronic otitis media	MP:0001850	increased susceptibility to otitis media	greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection
HP:0000772	Abnormality of the ribs	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000944	Abnormality of the metaphyses	MP:0013621	decreased internal diameter of femur	reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0000405	Conductive hearing impairment	MP:0006325	impaired hearing	reduced ability to perceive auditory stimuli
HP:0000774	Narrow chest	MP:0004134	abnormal chest morphology	any structural anomaly of the part of the body between the neck and the abdomen
HP:0003416	Spinal canal stenosis	MP:0010884	esophagus stenosis	abnormal narrowing or constriction of the esophagus
HP:0003312	Abnormal form of the vertebral bodies	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0005280	Depressed nasal bridge	MP:0013582	abnormal lateral nasal gland morphology	any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d
HP:0001522	Death in infancy	MP:0000790	abnormal stratification in cerebral cortex	abnormal formation or pattern of the layers of the cerebral cortex
HP:0008873	Disproportionate short-limb short stature	MP:0004672	short ribs	reduced length of the bones forming the bony wall of the chest
HP:0001645	Sudden cardiac death	MP:0012557	decreased calcium uptake by cardiac muscle	decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease
HP:0011800	Hypoplasia of midface	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0008921	Neonatal short-limb short stature	MP:0004830	short incisors	reduced length of the set of long teeth that are the most anterior and prominent in the jaw
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness

Mapped by homologous gene(Total Items:42)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0008905	Rhizomelia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002645	Wormian bones	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0100818	Long thorax	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000774	Narrow chest	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000689	Dental malocclusion	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003307	Hyperlordosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001522	Death in infancy	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0008803	Narrow sacroiliac notch	MP:0012114	absent inner cell mass proliferation
HP:0002119	Ventriculomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000463	Anteverted nares	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0008873	Disproportionate short-limb short stature	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000238	Hydrocephalus	MP:0020080	increased bone mineralization	increase in the rate at which minerals are deposited into bone
HP:0008921	Neonatal short-limb short stature	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000772	Abnormality of the ribs	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002970	Genu varum	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000956	Acanthosis nigricans	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001511	Intrauterine growth retardation	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0005280	Depressed nasal bridge	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001260	Dysarthria	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003042	Elbow dislocation	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0006487	Bowing of the long bones	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002104	Apnea	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0000405	Conductive hearing impairment	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000975	Hyperhidrosis	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0009811	Abnormality of the elbow	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001513	Obesity	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002870	Obstructive sleep apnea	MP:0012431	increased lymphoma incidence	greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0001645	Sudden cardiac death	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003312	Abnormal form of the vertebral bodies	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002167	Neurological speech impairment	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000678	Dental crowding	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005019	Diaphyseal thickening	MP:0013178	tail necrosis	morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage
HP:0003416	Spinal canal stenosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000389	Chronic otitis media	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001387	Joint stiffness	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000256	Macrocephaly	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0011800	Hypoplasia of midface	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0005692	Joint hyperflexibility	MP:0012125	decreased bronchoconstrictive response	reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0002808	Kyphosis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002007	Frontal bossing	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000944	Abnormality of the metaphyses	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	4
Disease	achondroplasia
Case	(Waiting for update.)