Phenotypes associated with this allele

• Allele Symbol: Psap^tm1Suz
• Allele Name: targeted mutation 1, Kunihiko Suzuki
• Allele ID: MGI:1888378
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psap^tm1Suz/Psap^tm1Suz	B6.129P2-Psap^tm1Suz	MGI:3768998
hm2	Psap^tm1Suz/Psap^tm1Suz	involves: 129P2/OlaHsd	MGI:3711319
hm3	Psap^tm1Suz/Psap^tm1Suz	involves: 129P2/OlaHsd * C57BL/6J	MGI:3712127
hm4	Psap^tm1Suz/Psap^tm1Suz	involves: 129P2/OlaHsd * FVB	MGI:3718877
ht5	Psap^tm1Suz/Psap^+	involves: 129P2/OlaHsd * FVB	MGI:3718879
ht6	Psap^tm1Suz/Psap^tm2.1Juma	involves: 129 * 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:6444208
cx7	Gba1^tm2Ggb/Gba1^tm2Ggb Psap^tm1Suz/Psap^tm1Suz	involves: 129P2/OlaHsd * 129S5/SvEvBrd	MGI:5287721

Genotype
MGI:3768998

hm1

• Allelic Composition: Psap^tm1Suz/Psap^tm1Suz
• Genetic Background: B6.129P2-Psap^tm1Suz

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:120657 )

prenatal lethality, incomplete penetrance ( J:120657 )

• with continued backcrossing to C57BL/6J, most homozygous embryos die in utero; live births are rare

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:120657 )

N • galactosylalkylacylglycerol (GalEAG) levels in the testis dramatically increase by 12 days of age, peak at 16 days and decrease rapidly to adult level, similar to pattern of wild-type

abnormal lipid level ( J:120657 )

• testis contain 150% of normal level of seminolipid at terminal stage of 34 days

• sphingomyelin levels are ~170% of control levels at terminal stage (34 days)

reproductive system

reproductive system phenotype ( J:120657 )

N • testis weight of homozygotes is not decreased, even at terminal stage of 34 days

N • no obvious sign of abnormal spermatogenesis is observed at 30 days

Genotype
MGI:3711319

hm2

• Allelic Composition: Psap^tm1Suz/Psap^tm1Suz
• Genetic Background: involves: 129P2/OlaHsd

mortality/aging

lethality at weaning, complete penetrance ( J:33477 )

• those that survive beyond the first few days grow normally until P18-P20 but generally die at about P35 in an emaciated condition

• attempts at keeping affected mice alive at greater than P35-P38 by forced feeding have been unsuccessful

neonatal lethality, incomplete penetrance ( J:33477 )

• a reduced number of homozygotes survive beyond a few days after birth (13% vs expected 25%); these die neonatally within a day or two of birth

prenatal lethality, incomplete penetrance ( J:33477 )

• a number of homozygotes appear to die in utero

cellular

decreased male germ cell number ( J:106511 )

♂ • 37-day old males have a reduced number of late spermatids compared to wild-type and heterozygotes

growth/size/body

decreased body size ( J:33477 )

• BY ~P18-P20, affected homozygotes are slightly smaller than wild-type littermates

• at P35-P38, the body size of affected mice is less than 50% of wild-type littermates

decreased body weight ( J:113052 )

• mice are smaller than littermates at birth and by day 30, body weight is >50% of wild-type or heterozygotes

slow postnatal weight gain ( J:113052 )

• after birth mice gain less body weight than littermates

reproductive system

decreased male germ cell number ( J:106511 )

♂ • 37-day old males have a reduced number of late spermatids compared to wild-type and heterozygotes

abnormal prostate gland morphology ( J:106511 )

♂ • tubular diameter is smaller than wild-type

♂ • at 25 and 30 days after birth, prostates of mutants are less developed and lined by an epithelium composed of short cells

abnormal prostate gland epithelium morphology ( J:106511 )

♂ • prostatic epithelial cells in 37-day old males are shorter than those seen in controls

decreased prostate gland weight ( J:106511 )

♂ • reduced in weight by 60%

abnormal seminal vesicle morphology ( J:106511 )

♂ • glands have smaller tubular diameters and shorter undifferentiated epithelial cells

decreased seminal vesicle weight ( J:106511 )

♂ • seminal vesicles are reduced in weight by 75%

decreased testis weight ( J:106511 )

♂ • testes are reduced in weight and size by 30% relative to wild-type controls

abnormal epididymis morphology ( J:106511 )

♂ • smaller tubular diameters and shorter undifferentiated epithelial cells are observed in epididymes

♂ • epithelium lining the efferent ducts is made up of mainly ciliated cells in mutants whereas wild-type mice epithelium is majorly composed of nonciliated cells

decreased epididymis weight ( J:106511 )

♂ • reduced in weight by 37%

nervous system

seizures ( J:113052 )

• mice start to show seizure activity around postnatal day 30 (P30)

tonic seizures ( J:33477 )

• at >P30, intermittent seizures develop and progress to continual tonic status epilepticus

abnormal nervous system morphology ( J:113052 )

• at P10, neuronal storage characterized by anti-ubiquitin Ab visualized granular immunoactivity becomes detectable in neuronal soma and neuropil of the spinal cord, and less prominently in brain stem and cerebrum

abnormal enteric ganglia morphology ( J:113052 )

• lamellar inclusions are seen in many ganglion cells in submucosal and myenteric plexi at P10, with myelin ovoids and abnormal Schwann cells similar to those in CNS and DRG after P20; axonal spheroids with dense bodies are also observed

abnormal choroid plexus morphology ( J:113052 )

• choroid plexus epithelial cells contain inclusions detected at P10

abnormal brain white matter morphology ( J:33477 )

• the mutant white matter is pale and ill-defined from the grey matter, suggesting paucity of myelin

abnormal astrocyte morphology ( J:113052 )

• after P30, some astrocytes contains inclusions; inclusions are conspicuous in macrophages and consist of aggregates of small vesicular lamellar structures and electron-dense granules often bounded by a membrane

astrocytosis ( J:113052 )

• astrocytes and microglia/macrophages are increased in numbers in cerebral and cerebellar white matter and fiber tracts of brain stem and spinal cord; after P30, increased numbers are detected in the gray matter

abnormal Schwann cell morphology ( J:113052 )

• Schwann cells with foamy cytoplasm are found in trigeminal and sciatic nerves, as well as the dorsal and ventral roots; similar myelin changes are seen in dorsal and ventral roots

• after P20, cytoplasmic inclusions are found in Schwann cells of many myelinated fibers, and some unmyelinated fibers

abnormal neuron morphology ( J:113052 )

• at P1, few membrane-bound inclusions are detected, becoming more abundant with aging; after P30, storage neurons with foamy perikarya are conspicuous in the CNS

• spinal neurons contain many inclusions containing small vesicular or concentric lamellar structures admixed with granular structures by P10

• in cerebral cortical neurons, inclusions containing electron-dense granular or amorphous materials are more common than in spinal neurons

• membrane-bound dense bodies are found in the dendrites and axons in the cerebral cortex and spinal gray matter

• in cerebellum, inclusions are noted in granular cells but rarely in Purkinje cells before P20

• large inclusions consisting of granular or lamellar structures of various sizes and shapes are detected in many CNS neurons after P30

• after P30, cell bodies of CNS neurons contain heterogeneous storage materials, including eosinophilic and basophilic materials

• at P36, intramuscular nerves show Schwann cell changes like those observed in sciatic nerve

abnormal dorsal root ganglion morphology ( J:113052 )

• at P1, many neurons of DRG contain ubiquitin-positive granular inclusions, similar to the inclusions found in CNS and trigeminal ganglion of older mice

axon degeneration ( J:113052 )

• degenerating large axons with electron-dense amorphous material and lamellar structures are detected in CNS after P20

• paucity of myelin is detected in cerebral and cerebellar white matter and fiber tracts of brain stem and spinal cord after P30

• in peripheral nerves, some myelinated fibers exhibit degeneration but unmyelinated fibers are normal

• sciatic and trigeminal nerves show various stages of axonal degeneration and occasional paranodal swelling after day 36

axonal spheroids ( J:113052 )

• axonal spheroids (localized axonal swellings) are detected in clusters in cerebral white matter adjacent to the striatum, ventral stria medullaris thalami, dorsal fornix, anterior commissure, and inferior cerebellar peduncle

• at P20, spheroids are mainly detected in the CNS white matter (spinal cord, brain stem, optic nerve) but increase in frequency in the gray matter after P30

• spheroids consist of axons filled with concentric or lamellar electron-dense bodies 0.1-0.3 um in diameter; after P20, many spheroids are covered with a myelin sheath

• some axonal spheroids are found at P20 in trigeminal and sciatic nerves; after P30, myelin ovoids increase

demyelination ( J:33477 )

• at P30, homozygotes display severe hypomyelination and periodic acid-Schiff-positive materials throughout the nervous system and in abnormal cells in the liver and spleen

behavior/neurological

abnormal food intake ( J:113052 )

• food intake decreases after 30 days of age, coincident with development of neurological symptoms

tremors ( J:33477 , J:113052 )

• by P30, homozygotes develop gross shaking of the trunk (J:33477)

• around postnatal day 20 (P20), mice develop tremor, first noted in tail during walking and soon becoming generalized to whole body (J:113052)

ataxia ( J:33477 )

• at ~P18-P20, homozygotes display weakness/ataxia of the hindlegs

abnormal head movements ( J:33477 )

• at ~P18-P20, homozygotes display tremulousness of the head

head shaking ( J:33477 )

• by P28-P30, homozygotes exhibit gross shaking of the head

abnormal gait ( J:113052 )

• around postnatal day 20 (P20), mice develop gait disturbances

decreased locomotor activity ( J:113052 )

• around postnatal day 20 (P20), mice begin to exhibit reduced activity

hyperactivity ( J:113052 )

• majority of mice display seizure-like hyperactivity after P30

hindlimb paralysis ( J:113052 )

• hindlimb paralysis progresses slowly

paraparesis ( J:113052 )

• after postnatal day 20 (P20), mice show progressive hindlimb weakness

seizures ( J:113052 )

• mice start to show seizure activity around postnatal day 30 (P30)

tonic seizures ( J:33477 )

• at >P30, intermittent seizures develop and progress to continual tonic status epilepticus

muscle

abnormal muscle fiber morphology ( J:113052 )

• some fibers show membranous inclusions

muscular atrophy ( J:113052 )

• majority of hindlimb girdle muscles become atrophic around P20

• skeletal muscles show occasional atrophic fibers on P36

progressive muscle weakness ( J:33477 )

• by P30, homozygotes display severe weakness of all legs

renal/urinary system

small kidney ( J:33477 )

• affected homozygotes display a significant reduction in kidney size

• no visceral organ abnormalities or organomegaly are observed

decreased kidney weight ( J:106511 )

• general weight reduction of 19%

abnormal renal tubule morphology ( J:113052 )

• many renal tubular epithelial cells have a granular appearance after P30

• proximal renal tubule epithelial cells have membranous inclusions at P10; at P30 many cells have electron-dense membrane-bound inclusions containing dense granules and small vesicular structures

• in older mice, inclusions are found in both proximal and distal tubule epithelial cells

homeostasis/metabolism

abnormal circulating testosterone level ( J:106511 )

• levels are normal or higher in mutants relative to wild-type mice

abnormal enzyme/coenzyme level ( J:283977 )

• activity of glucosylceramidase is about 60% that of wild-type mice

• total beta-hexaminidase activity is elevated

increased beta-galactosidase level ( J:283977 )

• activity of GM1-ganglioside beta-galactosidase is elevated

abnormal lipid homeostasis ( J:33477 )

• at P30, predominantly lactosylceramide, as well as ceramide, glucosylceramide, galactosylceramide, sulfatide, and globotriaosylceramide are abnormally increased in brain, liver, and kidney; their catabolism is abnormally slow in cultured fibroblasts

abnormal lipid level ( J:78223 )

• at 40 days, brain levels of psychosine (galactosylsphingosine) is much lower (17.2 pmoL/mg) than in wild-type controls (34 pmol/mg)

endocrine/exocrine glands

abnormal prostate gland morphology ( J:106511 )

♂ • tubular diameter is smaller than wild-type

♂ • at 25 and 30 days after birth, prostates of mutants are less developed and lined by an epithelium composed of short cells

abnormal prostate gland epithelium morphology ( J:106511 )

♂ • prostatic epithelial cells in 37-day old males are shorter than those seen in controls

decreased prostate gland weight ( J:106511 )

♂ • reduced in weight by 60%

abnormal seminal vesicle morphology ( J:106511 )

♂ • glands have smaller tubular diameters and shorter undifferentiated epithelial cells

decreased seminal vesicle weight ( J:106511 )

♂ • seminal vesicles are reduced in weight by 75%

decreased testis weight ( J:106511 )

♂ • testes are reduced in weight and size by 30% relative to wild-type controls

hematopoietic system

abnormal macrophage morphology ( J:113052 )

• in liver sinusoids, macrophages contain straight or curved loosely packed lamellar or small vesicular structures at P10; such structures increased in number and size markedly after P30 and often form tightly packed membranous conglomerates

• macrophages containing inclusions are found in the spleen at P10; after P30, macrophages with foamy periodic Schiff-positive cytoplasm increase in frequency in spleen

decreased spleen weight ( J:106511 )

• general weight reduction of 17%

immune system

abnormal macrophage morphology ( J:113052 )

• in liver sinusoids, macrophages contain straight or curved loosely packed lamellar or small vesicular structures at P10; such structures increased in number and size markedly after P30 and often form tightly packed membranous conglomerates

• macrophages containing inclusions are found in the spleen at P10; after P30, macrophages with foamy periodic Schiff-positive cytoplasm increase in frequency in spleen

decreased spleen weight ( J:106511 )

• general weight reduction of 17%

liver/biliary system

abnormal hepatocyte morphology ( J:113052 )

• some hepatocytes have lamellar and vesicular inclusions from P10

decreased liver weight ( J:106511 )

• general weight reduction of 20%

cardiovascular system

abnormal vascular endothelial cell morphology ( J:113052 )

• IN CNS, vesicular inclusions composed of many small vesicles are found in vascular endothelial cells after P20

• at P36 in lungs, some cells have inclusions

vision/eye

abnormal eye morphology ( J:113052 )

• neuronal inclusions in ganglion cells increase after P10

abnormal cornea stroma morphology ( J:113052 )

• fibroblasts in corneal stroma show inclusions made up of granular and membranous structures at P36

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
combined saposin deficiency		DOID:0111330	OMIM:611721	J:33477

Genotype
MGI:3712127

hm3

• Allelic Composition: Psap^tm1Suz/Psap^tm1Suz
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

nervous system

abnormal myelination ( J:121761 )

• myelin basic protein is decrease to about 45% of normal

Genotype
MGI:3718877

hm4

• Allelic Composition: Psap^tm1Suz/Psap^tm1Suz
• Genetic Background: involves: 129P2/OlaHsd * FVB

hearing/vestibular/ear

abnormal cochlea morphology ( J:116349 )

• starting at P15 and increasing through P30, homozygotes display a marked hyperplasia of cells surrounding the IHC and in the region of the inner sulcus and greater epithelial ridge

• other structures of the inner ear, including Reisner's membrane, stria vascularis, spiral ganglion, and cochlear scalae, appear unaffected

abnormal organ of Corti morphology ( J:116349 )

• starting at P15 and increasing through P30, homozygotes show a small bulge of tissue in the tunnel of Corti adjacent to the inner pillar cell

abnormal cochlear inner hair cell morphology ( J:116349 )

• as early as P12, homozygotes display a cellular hypertrophy in the region of IHCs, which continues through P30

abnormal cochlear IHC afferent innervation pattern ( J:116349 )

• NF-200 (afferent auditory neuronal) staining indicates an initial delay in the development of afferent terminals at P11, with subsequent prolific sprouting corresponding to the hypercellular region surrounding the IHC by P21

abnormal cochlear IHC efferent innervation pattern ( J:116349 )

• at P11, a slightly decreased synaptophysin (efferent auditory neuronal) staining intensity is noted in the region of IHCs

abnormal cochlear OHC efferent innervation pattern ( J:116349 )

• synaptophysin (efferent auditory neuronal) staining indicates that the tissue bulging into the tunnel of Corti represents a proliferation of efferent nerve terminal endings attempting to cross the tunnel of Corti on their way to OHCs; limited staining is noted in the region of OHCs at both P11 and P21

cochlear outer hair cell degeneration ( J:116349 )

• starting at P12, homozygotes show up to a 40% loss of OHCs in the cochlear apex extending through the first 2 mm of the cochlear duct, as well as vacuolization of OHCs

• in contrast, IHC numbers remain normal throughout the cochlea

abnormal Deiters cell morphology ( J:116349 )

• at >P25, homozygotes display hypertrophy of DCs, with an ill-defined border between DCs and the OHCs relative to wild-type mice

• the synaptic cleft between the OHC and DCs is also abnormally enlarged

abnormal cochlear outer hair cell physiology ( J:116349 )

• no adequate whole-cell voltage-clamp recordings can be obtained from homozygous mutant OHCs; when achieved, large leak currents are found, and active membrane currents are poor or absent, precluding assessment of cholinergic function

• in contrast, IHC recordings from homozygous mutant mice exhibit normal current-voltage I-V curves both at P7-P11 and at ~3 weeks of age (P19), as well as normal responses to applied acetylcholine, indicating functionally normal cholinergic efferent synapses at the IHC

increased or absent threshold for auditory brainstem response ( J:116349 )

• at ~2-4 weeks, homozygotes display significantly higher ABR thresholds in response to click stimuli and tone pips at 8, 16, and 32 kHz relative to heterozygous and wild-type littermates

decreased distortion product otoacoustic emission amplitude ( J:116349 )

• prior to P19, homozygotes display significantly reduced DPOAE amplitudes at very low (8 kHz) and high (32 kHz) frequencies relative to heterozygous and wild-type mice

• by P30, DPOAEs are significantly reduced at all test frequencies

deafness ( J:116349 )

• homozygotes are deaf by P25

sensorineural hearing loss ( J:116349 )

• although auditory development is normal through P19, hearing of homozygotes declines rapidly thereafter

nervous system

abnormal cochlear inner hair cell morphology ( J:116349 )

• as early as P12, homozygotes display a cellular hypertrophy in the region of IHCs, which continues through P30

abnormal cochlear IHC afferent innervation pattern ( J:116349 )

• NF-200 (afferent auditory neuronal) staining indicates an initial delay in the development of afferent terminals at P11, with subsequent prolific sprouting corresponding to the hypercellular region surrounding the IHC by P21

abnormal cochlear IHC efferent innervation pattern ( J:116349 )

• at P11, a slightly decreased synaptophysin (efferent auditory neuronal) staining intensity is noted in the region of IHCs

abnormal cochlear OHC efferent innervation pattern ( J:116349 )

• synaptophysin (efferent auditory neuronal) staining indicates that the tissue bulging into the tunnel of Corti represents a proliferation of efferent nerve terminal endings attempting to cross the tunnel of Corti on their way to OHCs; limited staining is noted in the region of OHCs at both P11 and P21

cochlear outer hair cell degeneration ( J:116349 )

• starting at P12, homozygotes show up to a 40% loss of OHCs in the cochlear apex extending through the first 2 mm of the cochlear duct, as well as vacuolization of OHCs

• in contrast, IHC numbers remain normal throughout the cochlea

abnormal cochlear outer hair cell physiology ( J:116349 )

• no adequate whole-cell voltage-clamp recordings can be obtained from homozygous mutant OHCs; when achieved, large leak currents are found, and active membrane currents are poor or absent, precluding assessment of cholinergic function

• in contrast, IHC recordings from homozygous mutant mice exhibit normal current-voltage I-V curves both at P7-P11 and at ~3 weeks of age (P19), as well as normal responses to applied acetylcholine, indicating functionally normal cholinergic efferent synapses at the IHC

Genotype
MGI:3718879

ht5

• Allelic Composition: Psap^tm1Suz/Psap⁺
• Genetic Background: involves: 129P2/OlaHsd * FVB

hearing/vestibular/ear

abnormal cochlea morphology ( J:116349 )

• at P12-P30, heterozygotes display a subtle cellular hyperplasia of the cells lining the region of the inner sulcus and greater epithelial ridge relative to wild-type mice

• however, overall cochlear morphology and bony anatomy is normal, and no hearing impairment is noted after P19

Genotype
MGI:6444208

ht6

• Allelic Composition: Psap^tm1Suz/Psap^tm2.1Juma
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J * FVB/N

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:283977 )

• mice develop progressive motor and behavioral deficit after 3 months of age mice show faster progression of neurological symptoms than homozygous Psap^tm2.1Juma mice

limb grasping ( J:283977 )

• mice show limb-clasping reflexes at 4 months of age

tremors ( J:283977 )

• tremors progress over time

impaired coordination ( J:283977 )

• mice show severely impaired motor coordination on the rotarod at 4 months of age, showing shorter staying times on the rod

abnormal gait ( J:283977 )

• gait disturbance progresses such that mice can hardly move at terminal stage of around 15 months

nervous system

Purkinje cell degeneration ( J:283977 )

• progressive loss of cerebellar Purkinje cells; Purkinje cell loss is first seen in the first cerebellar lobule at about 2 months of age and majority are lost by 12 months of age, remaining only in the 10th cerebellar lobule

abnormal cerebellar granule layer morphology ( J:283977 )

• cells with eosinophilic cytoplasm and condensed nuclei are seen in the granule layer, suggesting apoptosis

abnormal cerebellar granule cell morphology ( J:283977 )

• the perikarya of cerebellar granule cells exhibits accumulation of lipofuscin-like electron-dense material

decreased cerebellar granule cell number ( J:283977 )

• the number of granule cells is the granule layer is decreased

abnormal cerebellar molecular layer ( J:283977 )

• scattered PAS+ macrophages/microglia are seen in the molecular layer of the cerebellum

astrocytosis ( J:283977 )

• activated astrocytes are seen in areas of Purkinje cell loss

nervous system inclusion bodies ( J:283977 )

• trigeminal nerve shows ganglion cells with inclusion bodies; storage materials consist of many soap-bubble-like inclusions surrounded by membranes

• foamy inclusions are seen in the non-neuronal vascular endothelial cells in the cerebellum

• however, no pathological lesions including neuronal storage are seen in the cerebral cortex, hippocampus, thalamus, amygdala, caudate/putamen and substantia nigra and no signs of demyelination are seen in the central or peripheral nervous system

axonal spheroids ( J:283977 )

• axonal spheroids are evident in the cerebellar granular layers, brain stems, and in the dorsal horn of spinal cords

• spheroids consist of axons filled with membrane-derived concentric or lamellar bodies often containing mitochondria-like structures

cardiovascular system

abnormal vascular endothelial cell morphology ( J:283977 )

• foamy inclusions are seen in the non-neuronal vascular endothelial cells in the cerebellum

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:283977 )

N • no accumulation of glucosylceramide is seen in the brain and liver, even at terminal stage of about 12 months and no major abnormalities in profiles of other lipids are seen

hematopoietic system

hematopoietic system phenotype ( J:283977 )

N • mice show no signs of hepatosplenomegaly throughout life and spleen shows no changes

liver/biliary system

liver/biliary system phenotype ( J:283977 )

N • mice show no signs of hepatosplenomegaly throughout life and liver shows no changes

reproductive system

reproductive system phenotype ( J:283977 )

N • mice are fertile and testis are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Gaucher's disease	DOID:1926		J:283977

Genotype
MGI:5287721

cx7

• Allelic Composition: Gba1^tm2Ggb/Gba1^tm2Ggb; Psap^tm1Suz/Psap^tm1Suz
• Genetic Background: involves: 129P2/OlaHsd * 129S5/SvEvBrd

nervous system

neuron degeneration ( J:174780 )

• degenerating neurons are seen in multiple brain regions in 12 week old mutants, including the substantia nigra and cortex as indicated by the presence of eosinophilic spheroids

• degenerative changes occur concomitantly with an accumulation of soluble and insoluble alpha-synuclein

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gaucher's disease		DOID:1926		J:174780