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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   bloom syndrome
  

Disease ID 141
Disease bloom syndrome
Definition
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
Synonym
bloom syndrome (disorder)
bloom syndrome [disease/finding]
bloom torre machacek syndrome
bloom's syndrome
bloom-torre-machacek syndrome
blooms syndrome
bls
bs - bloom syndrome
congenital telangiectatic erythema
congenital telangiectatic erythema syndrome
syndrome, bloom
syndrome, bloom-torre-machacek
Orphanet
OMIM
DOID
UMLS
C0005859
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:4)
C0040188  |  tic disorders  |  1
C0007102  |  colonic cancer  |  1
C0006142  |  breast cancer  |  1
C0023449  |  acute lymphoblastic leukaemia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
7374  |  UNG  |  CTD_human
641  |  BLM  |  CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
641  |  BLM  |  CIPHER;CTD_human
7374  |  UNG  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:56)
546  |  ATRX  |  3.726  |  DISEASES
641  |  BLM  |  6.24  |  DISEASES
672  |  BRCA1  |  2.933  |  DISEASES
675  |  BRCA2  |  2.497  |  DISEASES
390259  |  BSX  |  2.723  |  DISEASES
79012  |  CAMKV  |  2.629  |  DISEASES
917  |  CD3G  |  2.043  |  DISEASES
978  |  CDA  |  3.14  |  DISEASES
995  |  CDC25C  |  1.045  |  DISEASES
1111  |  CHEK1  |  2.685  |  DISEASES
11200  |  CHEK2  |  1.917  |  DISEASES
8788  |  DLK1  |  1.185  |  DISEASES
1763  |  DNA2  |  2.157  |  DISEASES
146956  |  EME1  |  3.704  |  DISEASES
2068  |  ERCC2  |  1.849  |  DISEASES
2074  |  ERCC6  |  2.099  |  DISEASES
2138  |  EYA1  |  1.89  |  DISEASES
2175  |  FANCA  |  1.949  |  DISEASES
2188  |  FANCF  |  1.681  |  DISEASES
2706  |  GJB2  |  1.403  |  DISEASES
2788  |  GNG7  |  3.316  |  DISEASES
3014  |  H2AFX  |  2.833  |  DISEASES
28996  |  HIPK2  |  1.811  |  DISEASES
3355  |  HTR1F  |  1.476  |  DISEASES
3980  |  LIG3  |  2.665  |  DISEASES
84515  |  MCM8  |  2.582  |  DISEASES
9656  |  MDC1  |  1.699  |  DISEASES
4439  |  MSH5  |  2.159  |  DISEASES
4983  |  OPHN1  |  2.214  |  DISEASES
5277  |  PIGA  |  1.01  |  DISEASES
5573  |  PRKAR1A  |  1.192  |  DISEASES
5575  |  PRKAR1B  |  2.533  |  DISEASES
5884  |  RAD17  |  3.025  |  DISEASES
5888  |  RAD51  |  4.477  |  DISEASES
5892  |  RAD51D  |  1.963  |  DISEASES
5893  |  RAD52  |  3.123  |  DISEASES
8438  |  RAD54L  |  2.559  |  DISEASES
5932  |  RBBP8  |  1.903  |  DISEASES
5965  |  RECQL  |  5.76  |  DISEASES
5271  |  SERPINB8  |  2.069  |  DISEASES
79008  |  SLX1B  |  4.812  |  DISEASES
23137  |  SMC5  |  2.953  |  DISEASES
6672  |  SP100  |  1.364  |  DISEASES
7341  |  SUMO1  |  2.638  |  DISEASES
6613  |  SUMO2  |  1.818  |  DISEASES
6612  |  SUMO3  |  1.847  |  DISEASES
84260  |  TCHP  |  1.424  |  DISEASES
7150  |  TOP1  |  1.536  |  DISEASES
7153  |  TOP2A  |  2.271  |  DISEASES
7155  |  TOP2B  |  2.293  |  DISEASES
7156  |  TOP3A  |  4.542  |  DISEASES
7158  |  TP53BP1  |  3.773  |  DISEASES
11277  |  TREX1  |  1.521  |  DISEASES
7329  |  UBE2I  |  1.528  |  DISEASES
56897  |  WRNIP1  |  2.275  |  DISEASES
7520  |  XRCC5  |  1.172  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
BLM  |  15q26.1
Disease ID 141
Disease bloom syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:68)
HP:0002860  |  Squamous cell carcinoma
HP:0000028  |  Cryptorchidism
HP:0002720  |  IgA deficiency
HP:0002110  |  Bronchiectasis
HP:0003196  |  Short nose
HP:0004322  |  Short stature
HP:0005585  |  Spotty increased pigmentation
HP:0000027  |  Azoospermia
HP:0000246  |  Sinusitis
HP:0100585  |  Telangiectasia of the skin
HP:0000275  |  Decreased width of face
HP:0008897  |  Postnatal growth retardation
HP:0000366  |  Abnormality of the nose
HP:0000957  |  Cafe-au-lait macules
HP:0002205  |  Recurrent respiratory infections
HP:0002850  |  Decreased IgM level
HP:0010783  |  Erythema
HP:0004209  |  Clinodactyly of fifth digit
HP:0006101  |  Finger syndactyly
HP:0008897  |  Growth retardation as children
HP:0001909  |  Leukemia
HP:0001053  |  Hypopigmented skin patches
HP:0002014  |  Diarrhea
HP:0004313  |  Decreased antibody level in blood
HP:0000960  |  Sacral dimple
HP:0001511  |  Intrauterine growth retardation
HP:0003220  |  Abnormality of chromosome stability
HP:0000271  |  Abnormality of the face
HP:0002720  |  Decreased immunoglobulin A
HP:0001256  |  Intellectual disability, mild
HP:0000992  |  Skin photosensitivity
HP:0005598  |  Facial telangiectasia in butterfly midface distribution
HP:0000975  |  Hyperhidrosis
HP:0000252  |  Small head circumference
HP:0001161  |  Polydactyly of the hand
HP:0005590  |  Spotty hypopigmentation
HP:0002665  |  Lymphoma
HP:0002664  |  Neoplasm
HP:0000411  |  Prominent ears
HP:0000252  |  Microcephaly
HP:0000868  |  Decreased fertility in females
HP:0000275  |  Narrow face
HP:0000951  |  Abnormality of the skin
HP:0000272  |  Malar flattening
HP:0005978  |  Noninsulin dependent diabetes mellitus
HP:0000268  |  Dolichocephaly
HP:0001511  |  Prenatal onset growth retardation
HP:0005585  |  Spotty hyperpigmentation
HP:0004315  |  IgG deficiency
HP:0000998  |  Hypertrichosis
HP:0001159  |  Webbed fingers or toes
HP:0000448  |  Big nose
HP:0000272  |  Depressed malar region
HP:0000690  |  Absent upper lateral incisors
HP:0006528  |  Chronic lung disease
HP:0000411  |  Protruding ear
HP:0002850  |  IgM deficiency
HP:0000992  |  Cutaneous photosensitivity
HP:0002750  |  Delayed skeletal maturation
HP:0002488  |  Acute leukemia
HP:0001328  |  Specific learning disability
HP:0001620  |  High pitched voice
HP:0001161  |  Hand polydactyly
HP:0001256  |  Mild mental retardation
HP:0007378  |  Neoplasm of the gastrointestinal tract
HP:0009804  |  Reduced number of teeth
HP:0008064  |  Ichthyosis
HP:0010669  |  Cheekbone underdevelopment
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:3)
Disease ID 141
Disease bloom syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C1608408  |  malignant transformation
C1510497  |  lens opacities
C0238518  |  squamous cell carcinoma of the vagina
C0162429  |  malnutrition
C0037284  |  skin lesions
C0015411  |  eye findings
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Manually Genotypes:3)
Gene Mutation DOI Article Title
BLMchr15:g.91328183C>T, homozygous;NM_000057.3, NP_000048.1;c.2695C>T, p.(Arg899*)doi:10.1038/gim.2016.1A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
BLMc.2207_2212del6ins7doi:10.1038/gim.2016.30Carrier screening in the era of expanding genetic technology
BLMc.2207_2212 delATCTGA insTAGAT6doi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:43)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs113993962NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590766923ATCTGATAGATTC
rs137853153NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590794254GT
rs148969222NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590803721GA,T
rs20038914124096176641BLMumls:C0005859BeFreeHowever, based on the observed 0.6% population frequency of the Q548X allele, we estimate that one in 100,000 children should be affected by Bloom syndrome in Poland.0.6077211952013BLM1590761015CT
rs200389141NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590761015CT
rs367543012NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590769438-T
rs367543013NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590750040CT-
rs367543014NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590790748C-
rs367543015NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590760145AG
rs367543016NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590769233TG
rs367543017NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590798257CG,T
rs367543018NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590804195G-
rs367543019NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590769519-A
rs367543020NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590804289A-
rs367543021NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590804335-A
rs367543022NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590798202-A
rs367543023NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590790712CT
rs367543024NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590769537AG-
rs367543025NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590794344GA
rs367543026NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590749850T-
rs367543027NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590749543A-
rs367543028NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590765319CT
rs367543029NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590794311GC
rs367543030NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590749579CA
rs367543031NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590809232CT
rs367543032NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590794338AG,T
rs367543033NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590803637TT-
rs367543034NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590790680GT
rs367543035NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590749825CAA-
rs367543036NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590763158GT
rs367543037NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590798234-T
rs367543038NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590761001TA
rs367543039NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590782909GA
rs367543040NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590765416TG
rs367543043NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590760917-A
rs587779884NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590784953CT
rs587783037NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590803577CT
rs747281324NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590763098AG
rs780379121NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590794175G-
rs786204471NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590766966-AAAT
rs786204524NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590754842AAAGA-
rs786204640NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590749849TT-
rs797045115NA641BLMumls:C0005859CLINVARNA0.607721195NABLM1590790839-TATCA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:30)
HP ID HP Name MP ID MP Name Annotation
HP:0006528Chronic lung diseaseMP:0010895increased lung complianceincreased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure
HP:0003196Short noseMP:0002233abnormal nose morphologyany structural anomaly of the organ that is specialized for smell and is part of the respiratory system
HP:0000957Cafe-au-lait spotMP:0002939head spotthe appearance of a round area of white fur on the head
HP:0006101Finger syndactylyMP:0000564syndactylyany degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone
HP:0005978Type II diabetes mellitusMP:0004803increased susceptibility to autoimmune diabetesgreater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas
HP:0002205Recurrent respiratory infectionsMP:0014182decreased respiratory epithelial sodium ion transmembrane transportdecrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other
HP:0000992Cutaneous photosensitivityMP:0001202skin photosensitivityabnormally heightened reactivity of the skin to sunlight
HP:0009804Reduced number of teethMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0002488Acute leukemiaMP:0005481increased chronic myelocytic leukemia incidencehigher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages
HP:0002860Squamous cell carcinomaMP:0011903decreased hematopoietic stem cell proliferationreduction in the expansion rate of a hematopoietic stem cell population by cell division
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:0000951Abnormality of the skinMP:0013620increased internal diameter of femurincreased 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:0004313Decreased antibody level in bloodMP:0011460decreased urine chloride ion levelabnormally low amounts of chloride ion in the urine
HP:0000868Decreased fertility in femalesMP:0001921reduced fertilitydiminished ability to produce live offspring
HP:0008897Postnatal growth retardationMP:0011109lethality throughout fetal growth and development, 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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0003220Abnormality of chromosome stabilityMP:0006241abnormal placement of pupilsabnormal location of the pupil so that it is not in the center of the iris
HP:0001328Specific learning disabilityMP:0002802abnormal discrimination learninganomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus
HP:0000366Abnormality of the noseMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0001053Hypopigmented skin patchesMP:0004947skin inflammationlocal accumulation of fluid, plasma proteins, and leukocytes in the skin
HP:0001161Hand polydactylyMP:0009744postaxial polydactylyduplication of all or part of any of the rays except the first ray on one or more of the autopods
HP:0000690Agenesis of maxillary lateral incisorMP:0004251failure of heart loopingfailure of the primitive heart tube to loop asymmetrically during early development
HP:0000411Protruding earMP:0005105abnormal middle ear ossicle morphologyany structural anomaly of the three small bones of the middle ear
HP:0002750Delayed skeletal maturationMP:0003379absent sexual maturationfailure to initiate pubertal changes that result in achievement of full sexual capacity
HP:0001511Intrauterine growth retardationMP:0011109lethality throughout fetal growth and development, 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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0010669Hypoplasia of the zygomatic boneMP:0011205excessive folding of visceral yolk sacthe appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0004315IgG deficiencyMP:0002493increased IgG levelgreater than normal immunoglobulin class G level
HP:0000448Prominent noseMP:0002233abnormal nose morphologyany structural anomaly of the organ that is specialized for smell and is part of the respiratory system
HP:0002720IgA deficiencyMP:0002495increased IgA levelgreater than normal immunoglobulin class A level
HP:0100585Telangiectasia of the skinMP:0011022abnormal circadian regulation of systemic arterial blood pressureany anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours
HP:0000271Abnormality of the faceMP:0009889persistence of medial edge epithelium during palatal shelf fusionpalatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam
Mapped by homologous gene(Total Items:56)
HP ID HP Name MP ID MP Name Annotation
HP:0000411Protruding earMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000998HypertrichosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001256Intellectual disability, mildMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000268DolichocephalyMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002664NeoplasmMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0008897Postnatal growth retardationMP: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:0000275Narrow faceMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001161Hand polydactylyMP:0013545cleft hard palatecleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones
HP:0002720IgA deficiencyMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0010783ErythemaMP:0013781abnormal mammary gland luminal epithelium morphologyany structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0002205Recurrent respiratory infectionsMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0005598Facial telangiectasia in butterfly midface distributionMP:0012431increased lymphoma incidencegreater 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:0003196Short noseMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
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:0000951Abnormality of the skinMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001620High pitched voiceMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002488Acute leukemiaMP:0013886increased CD4-negative, CD25-positive NK T cell numberincrease in the number of CD4-negative NK T cells expressing the activation marker CD25
HP:0000271Abnormality of the faceMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000690Agenesis of maxillary lateral incisorMP:0012431increased lymphoma incidencegreater 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:0000992Cutaneous photosensitivityMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000868Decreased fertility in femalesMP:0014169decreased brown adipose tissue massdecreased physical bulk or volume of brown adipose tissue
HP:0002110BronchiectasisMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001511Intrauterine growth retardationMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
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:0002014DiarrheaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0005590Spotty hypopigmentationMP:0013886increased CD4-negative, CD25-positive NK T cell numberincrease in the number of CD4-negative NK T cells expressing the activation marker CD25
HP:0005978Type II diabetes mellitusMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0009804Reduced number of teethMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0006101Finger syndactylyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001328Specific learning disabilityMP: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:0002850IgM deficiencyMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000975HyperhidrosisMP:0020187altered susceptibility to prion infectionaltered 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:0005585Spotty hyperpigmentationMP:0012431increased lymphoma incidencegreater 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:0001053Hypopigmented skin patchesMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0000027AzoospermiaMP:0014233bile duct epithelium hyperplasia
HP:0002860Squamous cell carcinomaMP:0013502decreased fibroblast apoptosisreduction in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0003220Abnormality of chromosome stabilityMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0000957Cafe-au-lait spotMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0000960Sacral dimpleMP:0013787photophobia abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e
HP:0000246SinusitisMP:0020186altered susceptibility to bacterial infectiona change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
HP:0002665LymphomaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0006528Chronic lung diseaseMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0004313Decreased antibody level in bloodMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0007378Neoplasm of the gastrointestinal tractMP:0013310abnormal adrenal gland developmentaberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m
HP:0000366Abnormality of the noseMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000272Malar flatteningMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
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:0008064IchthyosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002750Delayed skeletal maturationMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0100585Telangiectasia of the skinMP:0014127increased thymoma incidencegreater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas
HP:0000448Prominent noseMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0010669Hypoplasia of the zygomatic boneMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
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:0001159SyndactylyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001909LeukemiaMP:0020186altered susceptibility to bacterial infectiona change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
HP:0004315IgG deficiencyMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
Disease ID 141
Disease bloom syndrome
Case(Waiting for update.)