eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pycnodysostosis | ||||
| Disease ID | 146 |
|---|---|
| Disease | pycnodysostosis |
| Definition | Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. |
| Synonym | maroteaux-lamy pyknodysostosis syndrome maroteaux-lamy syndrome 2 maroteaux-lamy syndrome ii pknd pycd pycnodysostoses pycnodysostosis (disorder) pycnodysostosis [disease/finding] pyknodysostoses pyknodysostosis pyknodysostosis (disorder) stanesco's dysostosis syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0238402 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0029443 | osteomyelitis | 2 C0008928 | cleidocranial dysplasia | 1 C0037315 | sleep apnea | 1 C0010278 | craniosynostosis | 1 C0041296 | tuberculosis | 1 C0032827 | k deficiency | 1 C0028754 | obesity | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 249 | ALPL | 1.726 | DISEASES 632 | BGLAP | 1.15 | DISEASES 796 | CALCA | 1.612 | DISEASES 799 | CALCR | 1.776 | DISEASES 1186 | CLCN7 | 3.73 | DISEASES 1435 | CSF1 | 1.031 | DISEASES 1520 | CTSS | 3.21 | DISEASES 1893 | ECM1 | 2.232 | DISEASES 128178 | EDARADD | 2.94 | DISEASES 3570 | IL6R | 1.554 | DISEASES 4170 | MCL1 | 1.55 | DISEASES 58484 | NLRC4 | 1.83 | DISEASES 5251 | PHEX | 1.01 | DISEASES 5744 | PTHLH | 1.624 | DISEASES 6696 | SPP1 | 1.366 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CTSK | 1q21.3 |
| Disease ID | 146 |
|---|---|
| Disease | pycnodysostosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:66) HP:0011800 | Midface retrusion HP:0000520 | Proptosis HP:0000670 | Dental caries HP:0006335 | Delayed loss of primary teeth HP:0002653 | Bone pain HP:0004474 | Front fontanelle stays open HP:0000347 | Hypoplasia of mandible HP:0003302 | Spondylolithesis HP:0004322 | Short stature HP:0100543 | Cognitive impairment HP:0009839 | Osteolytic defects of the outermost finger bone of the hand HP:0000248 | Brachycephaly HP:0000696 | Delayed eruption of secondary dentition HP:0000592 | Blue sclerae HP:0005930 | Abnormality of epiphysis morphology HP:0002645 | Wormian bones HP:0002793 | Abnormal pattern of respiration HP:0002797 | Osteolysis HP:0002644 | Abnormality of pelvic girdle bone morphology HP:0001807 | Ridged nail HP:0003304 | Spondylolysis HP:0001156 | Brachydactyly syndrome HP:0004322 | Stature below 3rd percentile HP:0002652 | Skeletal dysplasia HP:0002007 | Frontal bossing HP:0003307 | Hyperlordosis HP:0006482 | Abnormality of dental morphology HP:0000164 | Abnormality of the teeth HP:0000684 | Delayed eruption of teeth HP:0000774 | Narrow chest HP:0002007 | Frontal protruberance HP:0000189 | Decreased transverse dimension of palate HP:0001903 | Anemia HP:0000271 | Abnormality of the face HP:0000924 | Abnormality of the skeletal system HP:0000889 | Abnormality of the clavicle HP:0001831 | Short toe HP:0000925 | Abnormality of the vertebral column HP:0002754 | Osteomyelitis HP:0000269 | Protruding occiput HP:0011001 | Increased bone mineral density HP:0002688 | Absent frontal sinuses HP:0001807 | Grooved nails HP:0001156 | Brachydactyly HP:0002650 | Scoliosis HP:0000951 | Abnormality of the skin HP:0002757 | Recurrent fractures HP:0003468 | Abnormality of the vertebrae HP:0002808 | Kyphosis HP:0000272 | Malar flattening HP:0002240 | Hepatomegaly HP:0000680 | Late eruption of primary teeth HP:0001231 | Abnormality of the fingernails HP:0001597 | Abnormality of the nail HP:0001744 | Splenomegaly HP:0000448 | Big nose HP:0002644 | Abnormal shape of pelvic girdle bone HP:0009106 | Abnormal pelvis bone ossification HP:0000348 | High forehead HP:0002645 | Extra bones within cranial sutures HP:0000765 | Abnormality of the thorax HP:0004474 | Persistent open anterior fontanelle HP:0000189 | Narrow palate HP:0000238 | Hydrocephalus HP:0000668 | Failure of development of between one and six teeth HP:0009882 | Short distal phalanx of finger |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) |
| Disease ID | 146 |
|---|---|
| Disease | pycnodysostosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| CTSK | c.26T>C / c.27T>C, p.L9P / p.L9P | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
| CTSK | c.26T>C / c.508T>A, p.L9P / p.C170S | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs29001685 | NA | 1513 | CTSK | umls:C0238402 | CLINVAR | NA | 0.567871814 | NA | CTSK | 1 | 150796863 | A | G |
| rs29001685 | 10878663 | 1513 | CTSK | umls:C0238402 | UNIPROT | Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population. | 0.567871814 | 2000 | CTSK | 1 | 150796863 | A | G |
| rs74315301 | NA | 1513 | CTSK | umls:C0238402 | CLINVAR | NA | 0.567871814 | NA | CTSK | 1 | 150796799 | T | C |
| rs74315302 | NA | 1513 | CTSK | umls:C0238402 | CLINVAR | NA | 0.567871814 | NA | CTSK | 1 | 150804203 | C | G |
| rs74315303 | NA | 1513 | CTSK | umls:C0238402 | CLINVAR | NA | 0.567871814 | NA | CTSK | 1 | 150799607 | G | T,A |
| rs74315304 | NA | 1513 | CTSK | umls:C0238402 | CLINVAR | NA | 0.567871814 | NA | CTSK | 1 | 150799228 | G | A |
| rs74315304 | 9529353 | 1513 | CTSK | umls:C0238402 | BeFree | Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V). | 0.567871814 | 1998 | CTSK | 1 | 150799228 | G | A |
| rs74315305 | NA | 1513 | CTSK | umls:C0238402 | CLINVAR | NA | 0.567871814 | NA | CTSK | 1 | 150806109 | C | T |
| rs74315306 | NA | 1513 | CTSK | umls:C0238402 | CLINVAR | NA | 0.567871814 | NA | CTSK | 1 | 150806191 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:31) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| 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:0005930 | Abnormality of epiphysis morphology | 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:0003468 | Abnormality of the vertebrae | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| 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:0000924 | Abnormality of the skeletal system | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0009106 | Abnormal pelvis bone ossification | MP:0003055 | abnormal long bone epiphyseal plate morphology | any structural anomaly of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children |
| HP:0006335 | Persistence of primary teeth | 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:0002644 | Abnormality of pelvic girdle bone morphology | MP:0013620 | increased internal diameter of femur | increased 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:0000696 | Delayed eruption of permanent teeth | 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:0004474 | Persistent open anterior fontanelle | MP:0001302 | eyelids open at birth | open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leadi |
| HP:0000925 | Abnormality of the vertebral column | MP:0009005 | abnormal sesamoid bone of gastrocnemius morphology | any structural anomaly of the small sesamoid bones situated behind the condyles of the femur |
| HP:0000951 | Abnormality of the skin | MP:0013620 | increased internal diameter of femur | increased 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:0006482 | Abnormality of dental morphology | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any 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:0000189 | Narrow palate | MP:0009653 | abnormal palate development | abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| 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:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0001807 | Ridged nail | MP:0012405 | abnormal nail matrix morphology | any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any 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:0000765 | Abnormality of the thorax | MP:0013620 | increased internal diameter of femur | increased 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:0000680 | Delayed eruption of primary teeth | 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:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0000684 | Delayed eruption of teeth | 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:0009882 | Short distal phalanx of finger | 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:0002793 | Abnormal pattern of respiration | MP:0010954 | abnormal cellular respiration | anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration) |
| HP:0000448 | Prominent nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly 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:0000889 | Abnormality of the clavicle | 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:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:58) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002754 | Osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002645 | Wormian bones | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003307 | Hyperlordosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000680 | Delayed eruption of primary teeth | 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:0006335 | Persistence of primary teeth | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000592 | Blue sclerae | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004322 | Short stature | 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003302 | Spondylolisthesis | 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:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003304 | Spondylolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000925 | Abnormality of the vertebral column | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001744 | Splenomegaly | 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:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000889 | Abnormality of the clavicle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000269 | Prominent occiput | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009882 | Short distal phalanx of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000189 | Narrow palate | 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:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000696 | Delayed eruption of permanent teeth | 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:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000765 | Abnormality of the thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009106 | Abnormal pelvis bone ossification | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0004474 | Persistent open anterior fontanelle | 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:0002793 | Abnormal pattern of respiration | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003468 | Abnormality of the vertebrae | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001831 | Short toe | 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:0000924 | Abnormality of the skeletal system | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001807 | Ridged nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0009839 | Osteolytic defects of the distal phalanges of the hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000448 | Prominent nose | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000668 | Hypodontia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000951 | Abnormality of the skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0002688 | Absent frontal sinuses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 146 |
|---|---|
| Disease | pycnodysostosis |
| Case | (Waiting for update.) |