eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| zellweger syndrome | ||||
| Disease ID | 212 |
|---|---|
| Disease | zellweger syndrome |
| Definition | An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. |
| Synonym | cerebro hepato renal syndrome cerebro-hepato-renal syndrome cerebrohepatorenal syndrome chr chrs congenital iron overload pbd1a peroxisome biogenesis disorder 1a (zellweger) syndrome zellweger zellweger dis zellweger disease zellweger syndrome (disorder) zellweger syndrome [disease/finding] zellweger's syndrome zellwegers syndrome zs zws |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0043459 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:15) 5828 | PEX2 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 55670 | PEX26 | CTD_human;GHR;ORPHANET;UNIPROT 5189 | PEX1 | CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 5830 | PEX5 | CTD_human;GHR;ORPHANET;UNIPROT 5194 | PEX13 | CTD_human;GHR;ORPHANET;UNIPROT 5193 | PEX12 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 5192 | PEX10 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 5195 | PEX14 | CTD_human;GHR;ORPHANET;UNIPROT 8799 | PEX11B | ORPHANET 5824 | PEX19 | CTD_human;GHR;ORPHANET;UNIPROT 9409 | PEX16 | CTD_human;GHR;ORPHANET;UNIPROT 3295 | HSD17B4 | CTD_human;UNIPROT 5190 | PEX6 | CTD_human;GHR;ORPHANET;UNIPROT 8504 | PEX3 | CTD_human;GHR;ORPHANET;UNIPROT 5825 | ABCD3 | CTD_human |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:53) 340273 | ABCB5 | 1.387 | DISEASES 5825 | ABCD3 | 5.527 | DISEASES 5826 | ABCD4 | 2.073 | DISEASES 30 | ACAA1 | 4.246 | DISEASES 37 | ACADVL | 1.254 | DISEASES 8310 | ACOX3 | 3.792 | DISEASES 23600 | AMACR | 1.58 | DISEASES 347527 | ARSH | 1.466 | DISEASES 10134 | BCAP31 | 2.052 | DISEASES 1622 | DBI | 2.181 | DISEASES 1641 | DCX | 1.55 | DISEASES 2108 | ETFA | 1.635 | DISEASES 54942 | FAM206A | 5.458 | DISEASES 2224 | FDPS | 1.859 | DISEASES 122786 | FRMD6 | 1.805 | DISEASES 23732 | FRRS1L | 3.478 | DISEASES 10020 | GNE | 1.166 | DISEASES 8443 | GNPAT | 6.134 | DISEASES 26061 | HACL1 | 2.586 | DISEASES 3033 | HADH | 1.218 | DISEASES 3032 | HADHB | 1.764 | DISEASES 3295 | HSD17B4 | 5.529 | DISEASES 100423062 | IGLL5 | 1.191 | DISEASES 3710 | ITPR3 | 1.303 | DISEASES 90293 | KLHL13 | 4.223 | DISEASES 4082 | MARCKS | 1.272 | DISEASES 9968 | MED12 | 1.1 | DISEASES 10763 | NES | 1.552 | DISEASES 5048 | PAFAH1B1 | 2.186 | DISEASES 8863 | PER3 | 1.417 | DISEASES 8799 | PEX11B | 5.051 | DISEASES 5195 | PEX14 | 5.582 | DISEASES 5824 | PEX19 | 4.547 | DISEASES 5828 | PEX2 | 6.525 | DISEASES 55670 | PEX26 | 5.752 | DISEASES 8504 | PEX3 | 6.262 | DISEASES 5830 | PEX5 | 7.892 | DISEASES 51555 | PEX5L | 2.889 | DISEASES 5251 | PHEX | 5.76 | DISEASES 5292 | PIM1 | 1.003 | DISEASES 5365 | PLXNB3 | 2.659 | DISEASES 10654 | PMVK | 3.176 | DISEASES 5827 | PXMP2 | 4.276 | DISEASES 6342 | SCP2 | 5.159 | DISEASES 23677 | SH3BP4 | 3.137 | DISEASES 10478 | SLC25A17 | 6.159 | DISEASES 788 | SLC25A20 | 2.531 | DISEASES 26770 | SNORD79 | 3.009 | DISEASES 6721 | SREBF2 | 1.767 | DISEASES 26576 | SRPK3 | 3.205 | DISEASES 6888 | TALDO1 | 1.555 | DISEASES 121278 | TPH2 | 1.53 | DISEASES 7357 | UGCG | 1.274 | DISEASES |
| Locus | Symbol | Locus(Total Locus:13) |
| Disease ID | 212 |
|---|---|
| Disease | zellweger syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0000157 | Abnormality of the tongue HP:0000028 | Cryptorchidism HP:0000639 | Nystagmus HP:0000518 | Cataract HP:0100543 | Cognitive impairment HP:0004322 | Short stature HP:0001629 | Ventricular septal defect HP:0000474 | Thickened nuchal skin fold HP:0000218 | High palate HP:0005280 | Depressed nasal bridge HP:0001088 | Brushfield spots HP:0000047 | Hypospadias HP:0000582 | Upslanted palpebral fissure HP:0000347 | Micrognathia HP:0012736 | Profound global developmental delay HP:0002652 | Skeletal dysplasia HP:0012368 | Flat face HP:0000126 | Hydronephrosis HP:0000532 | Chorioretinal abnormality HP:0001522 | Death in infancy HP:0000952 | Jaundice HP:0000407 | Sensorineural hearing impairment HP:0001315 | Reduced tendon reflexes HP:0002024 | Malabsorption HP:0008872 | Feeding difficulties in infancy HP:0002353 | EEG abnormality HP:0001250 | Seizures HP:0000286 | Epicanthus HP:0000003 | Multicystic kidney dysplasia HP:0007957 | Corneal opacity HP:0002093 | Respiratory insufficiency HP:0000256 | Macrocephaly HP:0001399 | Hepatic failure HP:0005469 | Flat occiput HP:0000252 | Microcephaly HP:0000260 | Wide anterior fontanel HP:0000057 | Clitoromegaly HP:0000627 | Posterior embryotoxon HP:0001622 | Premature birth HP:0001508 | Failure to thrive HP:0000648 | Optic atrophy HP:0002240 | Hepatomegaly HP:0000431 | Wide nasal bridge HP:0002021 | Pyloric stenosis HP:0006829 | Severe muscular hypotonia HP:0000505 | Visual impairment HP:0000348 | High forehead HP:0001928 | Abnormality of coagulation HP:0010655 | Epiphyseal stippling HP:0002126 | Polymicrogyria HP:0008207 | Primary adrenal insufficiency HP:0009891 | Underdeveloped supraorbital ridges HP:0008572 | External ear malformation HP:0000501 | Glaucoma HP:0008167 | Very long chain fatty acid accumulation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 212 |
|---|---|
| Disease | zellweger syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:17) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434455 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92504812 | A | G |
| rs267608179 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92494486 | C | T |
| rs267608180 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92494485 | A | G |
| rs28939678 | 9539740 | 5189 | PEX1 | umls:C0043459 | UNIPROT | Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. | 0.568163119 | 1998 | NA | NA | NA | NA | NA |
| rs61750414 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92501914 | GA | - |
| rs61750415 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92503169 | - | A |
| rs61750418 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92501923 | G | A |
| rs61750420 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92501562 | C | T |
| rs61750423 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92496766 | T | - |
| rs61750426 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92494497 | T | - |
| rs749067142 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92517732 | TT | - |
| rs786204544 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92517868 | TTGGT | - |
| rs786204606 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92507080 | TG | - |
| rs786204638 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92517603 | AG | - |
| rs786204704 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1;RBM48 | 7 | 92528433 | C | T |
| rs786204743 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1 | 7 | 92511029 | AG | - |
| rs794729652 | NA | 5189 | PEX1 | umls:C0043459 | CLINVAR | NA | 0.568163119 | NA | PEX1;GATAD1 | 7 | 92491330 | - | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012368 | Flat face | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly 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:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any 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:0002021 | Pyloric stenosis | MP:0006128 | pulmonary valve stenosis | abnormal narrowing of the pulmonary valve |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| 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:0000218 | High palate | MP:0011615 | submucous cleft palate | a 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:0006829 | Severe muscular hypotonia | MP:0002269 | muscular atrophy | acquired diminution of muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occ |
| HP:0008207 | Primary adrenal insufficiency | MP:0011362 | ectopic adrenal gland | an adrenal gland located outside of its normal position |
| HP:0000260 | Wide anterior fontanel | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0001928 | Abnormality of coagulation | 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:0000003 | Multicystic kidney dysplasia | MP:0011376 | abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0008572 | External ear malformation | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0000582 | Upslanted palpebral fissure | MP:0012535 | abnormal optic fissure closure | failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its r |
| HP:0001522 | Death in infancy | MP:0000790 | abnormal stratification in cerebral cortex | abnormal formation or pattern of the layers of the cerebral cortex |
| HP:0008167 | Very long chain fatty acid accumulation | MP:0005281 | increased fatty acid level | elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may |
| HP:0000474 | Thickened nuchal skin fold | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| HP:0000157 | Abnormality of the tongue | 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 |
Mapped by homologous gene(Total Items:55) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012736 | Profound global developmental delay | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0002126 | Polymicrogyria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000474 | Thickened nuchal skin fold | 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:0001250 | Seizures | 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:0002021 | Pyloric stenosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased 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:0001522 | Death in infancy | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006829 | Severe muscular hypotonia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001629 | Ventricular septal defect | 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: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: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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001088 | Brushfield spots | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008207 | Primary adrenal insufficiency | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000501 | Glaucoma | 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:0000003 | Multicystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease 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:0000047 | Hypospadias | 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:0000407 | Sensorineural hearing impairment | 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:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000518 | Cataract | 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:0001508 | Failure to thrive | 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:0008572 | External ear malformation | 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:0000028 | Cryptorchidism | 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:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000057 | Clitoromegaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000627 | Posterior embryotoxon | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000582 | Upslanted palpebral fissure | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000532 | Chorioretinal abnormality | 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:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010655 | Epiphyseal stippling | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012368 | Flat face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005469 | Flat occiput | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased 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:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000639 | Nystagmus | 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:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000157 | Abnormality of the tongue | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0009891 | Underdeveloped supraorbital ridges | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000260 | Wide anterior fontanel | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000505 | Visual impairment | 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:0001928 | Abnormality of coagulation | 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:0008167 | Very long chain fatty acid accumulation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000252 | Microcephaly | 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:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000648 | Optic atrophy | 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:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 212 |
|---|---|
| Disease | zellweger syndrome |
| Case | (Waiting for update.) |