eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| refsum disease | ||||
| Disease ID | 148 |
|---|---|
| Disease | refsum disease |
| Definition | An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES. |
| Synonym | adult refsum disease adult refsum diseases classic refsum disease classic refsum diseases disease refsum disease refsum's disease refsums disease, adult refsum disease, classic refsum disease, refsum disease, refsum's diseases, adult refsum diseases, classic refsum hemeralopia heredoataxia polyneuritiformis hereditary motor and sensory neuropathy iv hereditary motor and sensory neuropathy type iv hereditary motor and sensory neuropathy, type iv hereditary sensory-motor neuropathy, type iv hereditary type iv motor and sensory neuropathy hereditary type iv motor sensory neuropathy heredoataxia hemeralopica polyneuritiformis heredoataxia polyneuritiformis, hemeralopia heredoataxic atactica polyneuritiformis heredoataxic hemeralopica polyneuritiformis heredopathia atactica polyneuritiformis hmsn 4 hmsn iv hmsn ivs hmsn type iv hmsn4 hsmn iv neuropathy hereditary motor sensory type iv neuropathy, hereditary motor and sensory, type iv neuropathy, hypertrophic of refsum phytanic acid oxidase deficiency phytanic acid storage dis phytanic acid storage disease phytanic acid storage disease (disorder) polyneuritiformis, hemeralopia heredoataxia polyneuritiformis, heredopathia atactica refsum dis refsum disease [disease/finding] refsum disease, adult refsum disease, classic refsum diseases, adult refsum diseases, classic refsum syndrome refsum thiebaut syndrome refsum's disease refsum's syndrome refsum-thiebaut disease refsum-thiebaut syndrome refsum-thiebaut syndromes refsum-thiébaut disease refsums dis refsums disease refsums syndrome syndrome, refsum syndrome, refsum's syndrome, refsum-thiebaut syndromes, refsum-thiebaut |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0034960 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:40) 30 | ACAA1 | 2.407 | DISEASES 55256 | ADI1 | 3.747 | DISEASES 153 | ADRB1 | 1.377 | DISEASES 224 | ALDH3A2 | 2.956 | DISEASES 23600 | AMACR | 2.231 | DISEASES 1174 | AP1S1 | 3.2 | DISEASES 54840 | APTX | 2.071 | DISEASES 85300 | ATCAY | 3.003 | DISEASES 54677 | CROT | 3.076 | DISEASES 55157 | DARS2 | 3.01 | DISEASES 1859 | DYRK1A | 1.566 | DISEASES 54942 | FAM206A | 4.308 | DISEASES 23732 | FRRS1L | 3.126 | DISEASES 11146 | GLMN | 2.817 | DISEASES 10020 | GNE | 1.772 | DISEASES 8443 | GNPAT | 3.433 | DISEASES 26061 | HACL1 | 3.103 | DISEASES 3032 | HADHB | 2.369 | DISEASES 3066 | HDAC2 | 1.133 | DISEASES 3295 | HSD17B4 | 3.661 | DISEASES 3745 | KCNB1 | 2.027 | DISEASES 51360 | MBTPS2 | 2.308 | DISEASES 8972 | MGAM | 1.209 | DISEASES 4541 | MT-ND6 | 1.69 | DISEASES 4566 | MT-TK | 2.029 | DISEASES 4688 | NCF2 | 1.797 | DISEASES 27035 | NOX1 | 1.331 | DISEASES 5195 | PEX14 | 3.501 | DISEASES 5828 | PEX2 | 2.683 | DISEASES 5830 | PEX5 | 6.938 | DISEASES 253260 | RICTOR | 1.582 | DISEASES 6223 | RPS19 | 1.564 | DISEASES 6277 | S100A6 | 1.372 | DISEASES 26278 | SACS | 3.38 | DISEASES 6342 | SCP2 | 3.895 | DISEASES 5268 | SERPINB5 | 1.042 | DISEASES 56904 | SH3GLB2 | 3.544 | DISEASES 10478 | SLC25A17 | 2.125 | DISEASES 6513 | SLC2A1 | 1.413 | DISEASES 7272 | TTK | 2.041 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 148 |
|---|---|
| Disease | refsum disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:56) HP:0000639 | Nystagmus HP:0001765 | Hammertoe HP:0010864 | Intellectual disability, severe HP:0002654 | Multiple epiphyseal dysplasia HP:0000568 | Microphthalmia HP:0000518 | Cataract HP:0000496 | Abnormality of eye movement HP:0000616 | Miosis HP:0007256 | Abnormal pyramidal signs HP:0012211 | Renal functional abnormality HP:0003474 | Sensory impairment HP:0002164 | Nail dysplasia HP:0002376 | Developmental regression HP:0005930 | Abnormality of epiphysis morphology HP:0000508 | Ptosis HP:0000083 | Renal insufficiency HP:0001635 | Congestive heart failure HP:0001251 | Ataxia HP:0002652 | Skeletal dysplasia HP:0009830 | Peripheral neuropathy HP:0007141 | Mixed polyneuropathy HP:0000407 | Sensorineural hearing impairment HP:0011675 | Arrhythmias HP:0003202 | Skeletal muscle atrophy HP:0004374 | Hemiplegia/hemiparesis HP:0010571 | Elevated levels of phytanic acid HP:0010049 | Short metacarpal HP:0000478 | Abnormality of the eye HP:0004689 | Short 4th long bone of foot HP:0002093 | Respiratory insufficiency HP:0000616 | Constricted pupils HP:0001265 | Decreased tendon reflexes HP:0000662 | Poor night vision HP:0000458 | Anosmia HP:0003690 | Limb weakness HP:0000529 | Progressive visual loss HP:0001760 | Abnormality of the foot HP:0007703 | Abnormality of retinal pigmentation HP:0001761 | Pes cavus HP:0001939 | Abnormality of metabolism/homeostasis HP:0001638 | Cardiomyopathy HP:0012722 | Heart block HP:0001744 | Splenomegaly HP:0000504 | Abnormality of vision HP:0000505 | Visual impairment HP:0000958 | Dry skin HP:0000488 | Retinopathy HP:0000510 | Retinitis pigmentosa HP:0002922 | Increased CSF protein HP:0001640 | Increased heart size HP:0000407 | sensorineural hearing loss HP:0000546 | Retinal degeneration HP:0001252 | Muscular hypotonia HP:0000508 | Drooping upper eyelid HP:0008064 | Ichthyosis HP:0000662 | Nyctalopia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 148 |
|---|---|
| Disease | refsum disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| PHYH | p.R175W | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| PHYH | p.R175W* | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267608252 | NA | 5191 | PEX7 | umls:C0034960 | CLINVAR | NA | 0.36953026 | NA | PEX7 | 6 | 136822621 | C | T |
| rs267608255 | NA | 5191 | PEX7 | umls:C0034960 | CLINVAR | NA | 0.36953026 | NA | PEX7 | 6 | 136845605 | A | G |
| rs28939671 | 10767344 | 5264 | PHYH | umls:C0034960 | UNIPROT | Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. | 0.567891677 | 2000 | NA | NA | NA | NA | NA |
| rs28939672 | 10767344 | 5264 | PHYH | umls:C0034960 | UNIPROT | Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. | 0.567891677 | 2000 | PHYH | 10 | 13288512 | G | T |
| rs28939673 | 10709665 | 5264 | PHYH | umls:C0034960 | UNIPROT | Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. | 0.567891677 | 1999 | NA | NA | NA | NA | NA |
| rs28939674 | 10767344 | 5264 | PHYH | umls:C0034960 | UNIPROT | Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. | 0.567891677 | 2000 | NA | NA | NA | NA | NA |
| rs62619919 | 10767344 | 5264 | PHYH | umls:C0034960 | UNIPROT | Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. | 0.567891677 | 2000 | PHYH | 10 | 13283784 | C | T |
| rs797045100 | NA | 5264 | PHYH | umls:C0034960 | CLINVAR | NA | 0.567891677 | NA | PHYH | 10 | 13283751 | AC | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010571 | Elevated levels of phytanic acid | 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: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:0007256 | Abnormal pyramidal signs | MP:0009940 | abnormal hippocampus pyramidal cell morphology | any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from |
| HP:0003690 | Limb muscle weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0000546 | Retinal degeneration | MP:0009412 | skeletal muscle fiber degeneration | pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function |
| HP:0000510 | Rod-cone dystrophy | MP:0003225 | axonal dystrophy | axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism |
| HP:0002922 | Increased CSF protein | MP:0008469 | abnormal protein level | anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| 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:0001760 | Abnormality of the foot | MP:0011665 | d-loop transposition of the great arteries | complete 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:0000958 | Dry skin | 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:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete 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:0000529 | Progressive visual loss | MP:0010749 | absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| 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:0000478 | Abnormality of the eye | 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:0010049 | Short metacarpal | MP:0004634 | short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0012211 | Abnormal renal physiology | MP:0011682 | renal glomerulus cysts | abnormal membranous sacs in any portion of the renal glomerulus |
| HP:0001939 | Abnormality of metabolism/homeostasis | 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:51) | ||||
|---|---|---|---|---|
| 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:0001640 | Cardiomegaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007141 | Sensorimotor neuropathy | 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:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000546 | Retinal degeneration | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000662 | Nyctalopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000529 | Progressive visual loss | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0003474 | Sensory impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002164 | Nail dysplasia | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010049 | Short metacarpal | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004374 | Hemiplegia/hemiparesis | 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:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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:0001265 | Hyporeflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004689 | Short fourth metatarsal | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000510 | Rod-cone dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001765 | Hammertoe | MP:0014062 | nervous system inclusion bodies | nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system |
| HP:0007256 | Abnormal pyramidal signs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001761 | Pes cavus | 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:0003690 | Limb muscle weakness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| 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:0012211 | Abnormal renal physiology | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0000458 | Anosmia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002922 | Increased CSF protein | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000616 | Miosis | 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:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002654 | Multiple epiphyseal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft 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:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000496 | Abnormality of eye movement | 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:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010571 | Elevated levels of phytanic acid | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 148 |
|---|---|
| Disease | refsum disease |
| Case | (Waiting for update.) |