Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   rubinstein-taybi syndrome
  

Disease ID 44
Disease rubinstein-taybi syndrome
Definition
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Synonym
broad thumb hallux syndrome
broad thumb-hallux syndrome
broad thumb-hallux syndromes
broad thumbs and great toes, characteristic facies, and mental retardation
rsts1
rubenstein taybi syndrome
rubenstein-taybi syndrome
rubinstein syndrome
rubinstein taybi syndrome
rubinstein taybis syndrome
rubinstein-taybi syndrome (disorder)
rubinstein-taybi syndrome 1
rubinstein-taybi syndrome [disease/finding]
syndrome rubinstein taybi
syndrome, broad thumb-hallux
syndrome, rubinstein
syndrome, rubinstein-taybi
syndromes, broad thumb-hallux
Orphanet
OMIM
DOID
UMLS
C0035934
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:11)
C0036439  |  scoliosis  |  2
C0027122  |  myositis ossificans  |  1
C0004352  |  autism  |  1
C0029927  |  ovarian cyst  |  1
C0476089  |  endometrial ca  |  1
C0476089  |  endometrial carcinoma  |  1
C0017601  |  glaucoma  |  1
C0013338  |  growth hormone deficiency  |  1
C0020302  |  infantile glaucoma  |  1
C0027121  |  myositis  |  1
C0206624  |  hepatoblastoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
1387  |  CREBBP  |  CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
2033  |  EP300  |  CTD_human;GHR;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
1387  |  CREBBP  |  CIPHER;CTD_human
2033  |  EP300  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:40)
57492  |  ARID1B  |  1.991  |  DISEASES
546  |  ATRX  |  1.968  |  DISEASES
54880  |  BCOR  |  1.663  |  DISEASES
6792  |  CDKL5  |  1.624  |  DISEASES
55636  |  CHD7  |  1.32  |  DISEASES
10370  |  CITED2  |  1.9  |  DISEASES
1385  |  CREB1  |  4.152  |  DISEASES
23741  |  EID1  |  2.353  |  DISEASES
2304  |  FOXE1  |  1.393  |  DISEASES
2290  |  FOXG1  |  1.505  |  DISEASES
9573  |  GDF3  |  2.179  |  DISEASES
55869  |  HDAC8  |  1.667  |  DISEASES
3091  |  HIF1A  |  1.016  |  DISEASES
8337  |  HIST2H2AA3  |  2.547  |  DISEASES
8338  |  HIST2H2AC  |  2.547  |  DISEASES
8349  |  HIST2H2BE  |  2.255  |  DISEASES
3483  |  IGFALS  |  2.535  |  DISEASES
3590  |  IL11RA  |  2.799  |  DISEASES
10524  |  KAT5  |  1.694  |  DISEASES
374654  |  KIF7  |  2.486  |  DISEASES
4038  |  LRP4  |  3.015  |  DISEASES
4204  |  MECP2  |  2.718  |  DISEASES
4763  |  NF1  |  1.399  |  DISEASES
64324  |  NSD1  |  1.63  |  DISEASES
5080  |  PAX6  |  1.605  |  DISEASES
5456  |  POU3F4  |  1.837  |  DISEASES
5727  |  PTCH1  |  1.964  |  DISEASES
8643  |  PTCH2  |  1.943  |  DISEASES
51715  |  RAB23  |  2.302  |  DISEASES
388015  |  RTL1  |  2.619  |  DISEASES
860  |  RUNX2  |  1.317  |  DISEASES
10284  |  SAP18  |  3.454  |  DISEASES
10479  |  SLC9A6  |  2.282  |  DISEASES
84679  |  SLC9A7  |  2.535  |  DISEASES
6597  |  SMARCA4  |  1.98  |  DISEASES
8243  |  SMC1A  |  1.894  |  DISEASES
9126  |  SMC3  |  2.009  |  DISEASES
51684  |  SUFU  |  1.611  |  DISEASES
7020  |  TFAP2A  |  1.53  |  DISEASES
157680  |  VPS13B  |  3.578  |  DISEASES
Locus(Waiting for update.)
Disease ID 44
Disease rubinstein-taybi syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:45)
HP:0000028  |  Cryptorchidism
HP:0000670  |  Carious teeth
HP:0001263  |  Global developmental delay
HP:0002553  |  Highly arched eyebrow
HP:0004322  |  Short stature
HP:0000365  |  Hearing impairment
HP:0002019  |  Constipation
HP:0100760  |  Clubbing of toes
HP:0000218  |  High palate
HP:0000508  |  Ptosis
HP:0001156  |  Brachydactyly syndrome
HP:0000987  |  Atypical scarring of skin
HP:0000347  |  Micrognathia
HP:0006101  |  Finger syndactyly
HP:0000506  |  Telecanthus
HP:0000369  |  Low-set ears
HP:0002564  |  Malformation of the heart and great vessels
HP:0000486  |  Strabismus
HP:0005692  |  Joint hyperflexibility
HP:0000316  |  Hypertelorism
HP:0001531  |  Failure to thrive in infancy
HP:0000164  |  Abnormality of the teeth
HP:0005306  |  Capillary hemangiomas
HP:0000739  |  Anxiety
HP:0000494  |  Downslanted palpebral fissures
HP:0008872  |  Feeding difficulties in infancy
HP:0001250  |  Seizures
HP:0000286  |  Epicanthus
HP:0010562  |  Keloids
HP:0002093  |  Respiratory insufficiency
HP:0000252  |  Microcephaly
HP:0002230  |  Generalized hirsutism
HP:0007018  |  Attention deficit hyperactivity disorder
HP:0004209  |  Clinodactyly of the 5th finger
HP:0000431  |  Wide nasal bridge
HP:0010059  |  Broad hallux phalanx
HP:0001249  |  Intellectual disability
HP:0001385  |  Hip dysplasia
HP:0000579  |  Nasolacrimal duct obstruction
HP:0009832  |  Abnormality of the distal phalanx of finger
HP:0000444  |  Convex nasal ridge
HP:0011304  |  Broad thumb
HP:0000737  |  Irritability
HP:0000501  |  Glaucoma
HP:0001561  |  Polyhydramnios
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:15)
HP:0000501  |  Glaucoma  |  2
HP:0001087  |  Childhood glaucoma  |  2
HP:0002650  |  Scoliosis  |  2
HP:0000138  |  Ovarian cyst  |  1
HP:0002597  |  Abnormality of blood vessels  |  1
HP:0012114  |  Endometrial carcinoma  |  1
HP:0100614  |  Muscle inflammation  |  1
HP:0000556  |  Retinal dystrophy  |  1
HP:0001274  |  Absent corpus callosum  |  1
HP:0000824  |  Growth hormone deficiency  |  1
HP:0002958  |  Immune dysregulation  |  1
HP:0002884  |  Hepatoblastoma  |  1
HP:0000717  |  Autism  |  1
HP:0002308  |  Chiari malformation  |  1
HP:0010562  |  Keloids  |  1
Disease ID 44
Disease rubinstein-taybi syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:15)
C0376293  |  stigmata
C0311237  |  goniodysgenesis
C0206724  |  sex cord stromal tumor
C0206711  |  pilomatrixomas
C0205834  |  multiple meningiomas
C0149887  |  slipped capital femoral epiphysis
C0033838  |  kimura disease
C0029166  |  oral manifestations
C0025958  |  microcephaly
C0022596  |  palmoplantar keratoderma
C0020302  |  congenital glaucoma
C0017152  |  gastritis
C0013261  |  duane retraction syndrome
C0010964  |  dandy-walker malformation
C0010308  |  congenital hypothyroidism
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
Manually Genotype(Total Manually Genotypes:1)
Gene Mutation DOI Article Title
Rubinstein-Taybi syndromeCREBBPNM_004380, c.5129G>A (p.C1710Y)doi:10.1038/gim.2015.186
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:75)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs11644721NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163851010CT
rs121434624NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163850689GC,A
rs121434625NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163793533GA
rs121434626NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163740399CG
rs143247685NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163770722TA,C
rs147688139NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163736812AG,T
rs200782888NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163749626CT
rs267606752NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163749631CT
rs28937315NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163757894TC
rs28937315253889071387CREBBPumls:C0035934UNIPROTInsights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.0.5892894352014CREBBP163757894TC
rs587783460NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163793539GA
rs587783461NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163793446GA
rs587783463NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163792054CT
rs587783464NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163792041GA
rs587783465NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163781290G-
rs587783467NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163780734T-
rs587783469NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163778098G-
rs587783470NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163777648AG-
rs587783471NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163770915GT
rs587783473NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163770843GA-
rs587783475NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163770659GA
rs587783476NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163850809GA
rs587783477NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163850796C-
rs587783478NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163850779GA
rs587783479NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163758913GA
rs587783480NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163758853CA
rs587783481NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163757918TC
rs587783482NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163757373CA
rs587783483NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163751725CT
rs587783484NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163879880TC
rs587783485NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163745274CT,A
rs587783486NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163740551TC
rs587783488NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163740510CG
rs587783489NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163740487GA
rs587783490NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163740454GA
rs587783491NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163740398CT
rs587783492NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163739632AG
rs587783493NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163738683GC
rs587783494NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163738577TC
rs587783495NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163736766AC
rs587783496NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163736765TC
rs587783497NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163736702TC
rs587783499NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163736075C-
rs587783500NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163731874T-
rs587783503NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163731314AG
rs587783505NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163729226GA
rs587783506NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163729203CGGGGGTGGGG-
rs587783507NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163729210G-
rs587783508NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163729178C-
rs587783509NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163850497GA
rs587783510NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163728959GA
rs587783511NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163728876CTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC-
rs587783515NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163851011TG
rs587783516NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163810625GT
rs794727124NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163770765G-
rs794727391NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163740539G-
rs797045037NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163729433TC
rs797045483NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163774673-G
rs797045484NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163770760TGCCCGGAAGACGG
rs797045485NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163770639-G
rs797045486NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163850812-G
rs797045487NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163879915AT
rs797045488NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163767885CTCCTTGCATT
rs797045489NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163757982GA
rs797045490NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163757956-A
rs797045491NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163850745-CA
rs797045492NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163757928CG
rs797045494NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163738672CA
rs797045495NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163731337CT
rs797045496NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163729635GT
rs797045497NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163729209-G
rs797045498NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163729110-A
rs797045499NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163728931ACAGGCCTGG-
rs797045500NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163728629-CAGGCTGGGCTGCTGGTGCATGC
rs797045502NA1387CREBBPumls:C0035934CLINVARNA0.589289435NACREBBP163810749-AA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:15)
HP ID HP Name MP ID MP Name Annotation
HP:0000987Atypical scarring of skinMP:0011205excessive folding of visceral yolk sacthe appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0000670Carious teethMP:0004033supernumerary teethoccurrence of more than the usual number of teeth
HP:0008872Feeding difficulties in infancyMP:0011075abnormal macrophage activation involved in immune responseanomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
HP:0000431Wide nasal bridgeMP:0006292abnormal nasal placode morphologyany structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith
HP:0000579Nasolacrimal duct obstructionMP:0009525abnormal submandibular duct morphologyany structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue
HP:0000218High palateMP:0011615submucous cleft palatea cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate
HP:0001531Failure to thrive in infancyMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0004209Clinodactyly of the 5th fingerMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0001263Global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
HP:0000444Convex nasal ridgeMP:0004471short nasal bonereduced length of either of two rectangular bone plates forming the bridge of the nose
HP:0006101Finger syndactylyMP:0000564syndactylyany degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone
HP:0000164Abnormality of the teethMP:0010382abnormal dosage compensation, by inactivation of X chromosomeanomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex
HP:0007018Attention deficit hyperactivity disorderMP:0001399hyperactivitygeneral restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity
HP:0009832Abnormality of the distal phalanx of fingerMP:0009886failure of palatal shelf elevationthe palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue
HP:0100760Clubbing of toesMP:0001841decreased level of surface class I moleculesreduced expression of major histocompatibility complex class I molecules at the cell surface
Mapped by homologous gene(Total Items:43)
HP ID HP Name MP ID MP Name Annotation
HP:0001385Hip dysplasiaMP:0013293embryonic lethality prior to tooth bud stagedeath prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0000739AnxietyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000987Atypical scarring of skinMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000508PtosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000164Abnormality of the teethMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany 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:0000486StrabismusMP:3000003abnormal Ebner's gland morphologyany 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:0004322Short statureMP:3000003abnormal Ebner's gland morphologyany 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:0000506TelecanthusMP:0020039increased bone ossificationincrease 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:0000501GlaucomaMP:3000003abnormal Ebner's gland morphologyany 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:0000347MicrognathiaMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0007018Attention deficit hyperactivity disorderMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0000316HypertelorismMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002093Respiratory insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002553Highly arched eyebrowMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0009832Abnormality of the distal phalanx of fingerMP:0011108embryonic lethality during organogenesis, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0000028CryptorchidismMP:3000003abnormal Ebner's gland morphologyany 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:0001156Brachydactyly syndromeMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000670Carious teethMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0006101Finger syndactylyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002230Generalized hirsutismMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000444Convex nasal ridgeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0005306Capillary hemangiomasMP:0013956decreased colon lengthreduced length of the portion of the large intestine between the cecum and the rectum
HP:0000737IrritabilityMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001263Global developmental delayMP:3000003abnormal Ebner's gland morphologyany 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:0001561PolyhydramniosMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001531Failure to thrive in infancyMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000365Hearing impairmentMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0008872Feeding difficulties in infancyMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000218High palateMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000286EpicanthusMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000494Downslanted palpebral fissuresMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000579Nasolacrimal duct obstructionMP:0020039increased bone ossificationincrease 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:0100760Clubbing of toesMP:0012009early parturitionthe process of labor and delivery in female animals occurs earlier in gestation than expected
HP:0004209Clinodactyly of the 5th fingerMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000369Low-set earsMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0010562KeloidsMP:0012700abnormal endocardial heart tube morphologyany structural anomaly of the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic
HP:0005692Joint hyperflexibilityMP:0012125decreased bronchoconstrictive responsereduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0011304Broad thumbMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002019ConstipationMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0000252MicrocephalyMP:3000003abnormal Ebner's gland morphologyany 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:0000431Wide nasal bridgeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 44
Disease rubinstein-taybi syndrome
Case(Waiting for update.)