eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| norrie disease | ||||
| Disease ID | 76 |
|---|---|
| Disease | norrie disease |
| Definition | A rare, X-linked recessive inherited syndrome caused by mutations in the NPD gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays. |
| Synonym | anderson-warburg syndrome atrophia bulborum hereditaria atrophia bulborum hereditaria (disorder) congenital progressive oculo-acoustico-cerebral degeneration episkopi blindness fetal iritis syndrome norrie syndrome norrie's disease norrie-warburg syndrome oligophrenia microphthalmus pseudoglioma congenita whitnall-norman syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0266526 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0014544 | epilepsy | 1 C0042974 | von willebrand disease | 1 C0456909 | blindness | 1 C0152171 | idiopathic pulmonary hypertension | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:48) 347 | APOD | 1.751 | DISEASES 9138 | ARHGEF1 | 1.34 | DISEASES 64283 | ARHGEF28 | 2.453 | DISEASES 64072 | CDH23 | 2.015 | DISEASES 1028 | CDKN1C | 1.104 | DISEASES 9350 | CER1 | 2.318 | DISEASES 1121 | CHM | 3.219 | DISEASES 7401 | CLRN1 | 2.802 | DISEASES 1280 | COL2A1 | 1.162 | DISEASES 1285 | COL4A3 | 1.499 | DISEASES 1297 | COL9A1 | 2.497 | DISEASES 9946 | CRYZL1 | 4.938 | DISEASES 1499 | CTNNB1 | 1.355 | DISEASES 1523 | CUX1 | 1.861 | DISEASES 199699 | DAND5 | 1.894 | DISEASES 1855 | DVL1 | 1.836 | DISEASES 1908 | EDN3 | 1.279 | DISEASES 80258 | EFHC2 | 3.431 | DISEASES 2005 | ELK4 | 2.985 | DISEASES 2050 | EPHB4 | 1.745 | DISEASES 8322 | FZD4 | 5.48 | DISEASES 8323 | FZD6 | 2.43 | DISEASES 2736 | GLI2 | 1.27 | DISEASES 3295 | HSD17B4 | 2.13 | DISEASES 3738 | KCNA3 | 1.62 | DISEASES 55366 | LGR4 | 2.517 | DISEASES 4128 | MAOA | 5.532 | DISEASES 4129 | MAOB | 5.059 | DISEASES 57591 | MKL1 | 1.754 | DISEASES 57496 | MKL2 | 2.855 | DISEASES 283463 | MUC19 | 3.129 | DISEASES 4588 | MUC6 | 1.27 | DISEASES 4693 | NDP | 7.37 | DISEASES 9241 | NOG | 1.208 | DISEASES 60506 | NYX | 2.201 | DISEASES 4942 | OAT | 2.722 | DISEASES 5080 | PAX6 | 1.767 | DISEASES 65217 | PCDH15 | 2.118 | DISEASES 5451 | POU2F1 | 2.489 | DISEASES 5456 | POU3F4 | 2.955 | DISEASES 284654 | RSPO1 | 3.077 | DISEASES 6424 | SFRP4 | 1.741 | DISEASES 6609 | SMPD1 | 1.254 | DISEASES 4943 | TBC1D25 | 2.97 | DISEASES 7075 | TIE1 | 1.82 | DISEASES 6944 | VPS72 | 2.981 | DISEASES 8838 | WISP3 | 2.226 | DISEASES 7481 | WNT11 | 2.109 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) NDP | Xp11.3 |
| Disease ID | 76 |
|---|---|
| Disease | norrie disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:64) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0004327 | Abnormality of the vitreous humor HP:0011039 | Abnormality of the helix HP:0100716 | Self-injurious behavior HP:0010978 | Abnormality of immune system physiology HP:0000568 | Microphthalmia HP:0000615 | Abnormality of the pupil HP:0000518 | Cataract HP:0000647 | Sclerocornea HP:0008063 | Aplasia/Hypoplasia of the lens HP:0008046 | Abnormality of the retinal vasculature HP:0000541 | Retinal detachment HP:0100639 | Erectile abnormalities HP:0100742 | Vascular neoplasm HP:0006887 | Intellectual disability, progressive HP:0000601 | Hypotelorism HP:0002376 | Developmental regression HP:0000233 | Thin vermilion border HP:0007676 | Hypoplasia of the iris HP:0007833 | Anterior chamber synechiae HP:0000490 | Deeply set eye HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0000618 | Blindness HP:0000532 | Chorioretinal abnormality HP:0000733 | Stereotypy HP:0002120 | Cerebral cortical atrophy HP:0000407 | Sensorineural hearing impairment HP:0000739 | Anxiety HP:0001276 | Hypertonia HP:0002353 | EEG abnormality HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0100718 | Uterine rupture HP:0007957 | Corneal opacity HP:0002650 | Scoliosis HP:0000252 | Microcephaly HP:0002169 | Clonus HP:0005293 | Venous insufficiency HP:0007968 | Persistent hyperplastic primary vitreous HP:0000709 | Psychosis HP:0010662 | Abnormality of the diencephalon HP:0001508 | Failure to thrive HP:0000272 | Malar flattening HP:0000648 | Optic atrophy HP:0000823 | Delayed puberty HP:0000375 | Abnormality of cochlea HP:0002076 | Migraine HP:0007018 | Attention deficit hyperactivity disorder HP:0002360 | Sleep disturbance HP:0000717 | Autism HP:0004326 | Cachexia HP:0000411 | Protruding ear HP:0100012 | Neoplasm of the eye HP:0001083 | Ectopia lentis HP:0001324 | Muscle weakness HP:0001347 | Hyperreflexia HP:0000819 | Diabetes mellitus HP:0000738 | Hallucinations HP:0000400 | Macrotia HP:0000737 | Irritability HP:0001252 | Muscular hypotonia HP:0000446 | Narrow nasal bridge HP:0000501 | Glaucoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) |
| Disease ID | 76 |
|---|---|
| Disease | norrie disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| NDP | Nullizygous del whole gene | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894867 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949932 | C | T,G,A |
| rs104894868 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949977 | G | C |
| rs104894869 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43950022 | A | T |
| rs104894870 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43958515 | T | C |
| rs104894871 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949914 | C | T |
| rs104894872 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949995 | C | G |
| rs104894873 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949817 | G | T,A |
| rs104894875 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949888 | C | T |
| rs104894877 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949913 | G | C |
| rs104894879 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43958608 | A | C |
| rs104894880 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43950020 | G | A |
| rs104894882 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949983 | G | T |
| rs104894883 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949899 | G | A |
| rs137852221 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43958512 | A | T |
| rs28933684 | 8252044 | 4128 | MAOA | umls:C0266526 | BeFree | Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. | 0.002442977 | 1993 | NDP | X | 43949831 | G | A |
| rs28933684 | 8252044 | 4693 | NDP | umls:C0266526 | BeFree | Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. | 0.570977227 | 1993 | NDP | X | 43949831 | G | A |
| rs28933685 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43958645 | T | C |
| rs727504031 | NA | 4693 | NDP | umls:C0266526 | CLINVAR | NA | 0.570977227 | NA | NDP | X | 43949981 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:26) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011039 | Abnormality of the helix | MP:0004485 | increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0004327 | Abnormality of the vitreous humor | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0000541 | Retinal detachment | MP:0003099 | retinal detachment | detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma |
| 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:0001083 | Ectopia lentis | MP:0005263 | ectopia lentis | congenital displacement of the lens due to defective zonule formation |
| HP:0007833 | Anterior chamber synechiae | MP:0010709 | absent anterior chamber | absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000446 | Narrow nasal bridge | MP:0006293 | absent nasal placodes | absence of 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 epithelium of the no |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0007676 | Hypoplasia of the iris | MP:0011481 | anterior iris synechia | adhesion of the iris to the cornea |
| HP:0007968 | Persistent hyperplastic primary vitreous | MP:0006200 | vitreous body deposition | abnormal accumulation of material in the vitreous body |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0008046 | Abnormality of the retinal vasculature | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| 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:0100716 | Self-injurious behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
| HP:0000615 | Abnormality of the pupil | 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:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| HP:0000733 | Stereotypic behavior | MP:0012312 | impaired avoidance learning behavior | impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus |
| HP:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
| HP:0008063 | Aplasia/Hypoplasia of the lens | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0000490 | Deeply set eye | MP:0009829 | enlarged eye anterior chamber | increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| HP:0006887 | Intellectual disability, progressive | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0002120 | Cerebral cortical 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: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 |
Mapped by homologous gene(Total Items:62) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000411 | Protruding ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008046 | Abnormality of the retinal vasculature | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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: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:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100639 | Erectile abnormalities | 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:0007833 | Anterior chamber synechiae | MP:0014164 | abnormal 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:0011039 | Abnormality of the helix | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000615 | Abnormality of the pupil | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007676 | Hypoplasia of the iris | MP:0014164 | abnormal 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:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| 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:0005293 | Venous insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006887 | Intellectual disability, progressive | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100742 | Vascular neoplasm | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| 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:0004327 | Abnormality of the vitreous humor | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000490 | Deeply set eye | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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: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:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000541 | Retinal detachment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0007360 | Aplasia/Hypoplasia of the cerebellum | 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:0002169 | Clonus | MP:0013401 | increased endometrial gland number | greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000446 | Narrow nasal bridge | 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:0007968 | Persistent hyperplastic primary vitreous | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0100716 | Self-injurious behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000532 | Chorioretinal abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000568 | Microphthalmia | 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:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000709 | Psychosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002376 | Developmental regression | 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:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0100718 | Uterine rupture | MP:0011575 | dilated aorta bulb | the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid |
| HP:0000233 | Thin vermilion border | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002076 | Migraine | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0000647 | Sclerocornea | 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:0000733 | Stereotypic behavior | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100012 | Neoplasm of the eye | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0008063 | Aplasia/Hypoplasia of the lens | 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:0000738 | Hallucinations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000601 | Hypotelorism | 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: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: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:0001083 | Ectopia lentis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 76 |
|---|---|
| Disease | norrie disease |
| Case | (Waiting for update.) |