Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.4.1.-
Transferases;
Glycosyltransferases;
Hexosyltransferases;
3.2.1.-
Hydrolases;
Glycosylases;
Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds;
3.2.1.45
Hydrolases;
Glycosylases;
Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds;
glucosylceramidase
3.2.1.46
Hydrolases;
Glycosylases;
Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds;
galactosylceramidase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1OGS | 2.0 | human acid-beta-glucosidase |
| 1Y7V | 2.4 | X-ray structure of human acid-beta-glucosidase covalently bound to conduritol B epoxide |
| 2F61 | 2.5 | Crystal structure of partially deglycosylated acid beta-glucosidase |
| 2J25 | 2.9 | Partially deglycosylated glucoceramidase |
| 2NSX | 2.11 | Structure of acid-beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease |
| 2NT0 | 1.79 | Acid-beta-glucosidase low pH, glycerol bound |
| 2NT1 | 2.3 | Structure of acid-beta-glucosidase at neutral pH |
| 2V3D | 1.96 | acid-beta-glucosidase with N-butyl-deoxynojirimycin |
| 2V3E | 2.0 | acid-beta-glucosidase with N-nonyl-deoxynojirimycin |
| 2V3F | 1.95 | acid-beta-glucosidase produced in carrot |
| 2VT0 | 2.15 | X-ray structure of a conjugate with conduritol-beta-epoxide of acid-beta-glucosidase overexpressed in cultured plant cells |
| 2WCG | 2.3 | X-ray structure of acid-beta-glucosidase with N-octyl(cyclic guanidine)-nojirimycin in the active site |
| 2WKL | 2.7 | Velaglucerase alfa |
| 2XWD | 2.66 | X-RAY STRUCTURE OF ACID-BETA-GLUCOSIDASE WITH 5N,6O-(N'-(N-OCTYL)IMINO)NOJIRIMYCIN IN THE ACTIVE SITE |
| 2XWE | 2.31 | X-RAY STRUCTURE OF ACID-BETA-GLUCOSIDASE WITH 5N,6S-(N'-(N-OCTYL)IMINO)-6-THIONOJIRIMYCIN IN THE ACTIVE SITE |
| 3GXD | 2.5 | Crystal structure of Apo acid-beta-glucosidase pH 4.5 |
| 3GXF | 2.4 | Crystal structure of acid-beta-glucosidase with isofagomine at neutral pH |
| 3GXI | 1.84 | Crystal structure of acid-beta-glucosidase at pH 5.5 |
| 3GXM | 2.2 | Crystal structure of acid-beta-glucosidase at pH 4.5, phosphate crystallization condition |
| 3KE0 | 2.7 | Crystal structure of N370S Glucocerebrosidase at acidic pH. |
| 3KEH | 2.8 | Crystal Structure of N370S Glucocerebrosidase mutant at pH 7.4 |
| 3RIK | 2.48 | The acid beta-glucosidase active site exhibits plasticity in binding 3,4,5,6-tetrahydroxyazepane-based inhibitors: implications for pharmacological chaperone design for gaucher disease |
| 3RIL | 2.4 | The acid beta-glucosidase active site exhibits plasticity in binding 3,4,5,6-tetrahydroxyazepane-based inhibitors: implications for pharmacological chaperone design for gaucher disease |
| 5LVX | 2.2 | Crystal structure of glucocerebrosidase with an inhibitory quinazoline modulator |
| 6MOZ | 2.1 | Structure of acid-beta-glucosidase in complex with an aromatic pyrrolidine iminosugar inhibitor |
| 6Q1N | 2.526 | Glucocerebrosidase in complex with pharmacological chaperone IMX8 |
| 6Q1P | 2.796 | Glucocerebrosidase in complex with pharmacological chaperone norIMX8 |
| 6Q6K | 1.92 | Crystal structure of recombinant human beta-glucocerebrosidase in complex with cyclophellitol activity based probe with Cy5 tag (ME569) |
| 6Q6L | 1.81 | Crystal structure of recombinant human beta-glucocerebrosidase in complex with adamantyl-cyclophellitol inhibitor (ME656) |
| 6Q6N | 1.63 | Crystal structure of recombinant human beta-glucocerebrosidase in complex with biphenyl-cyclophellitol inhibitor (ME655) |
| 6T13 | 1.85 | CRYSTAL STRUCTURE OF GLUCOCEREBROSIDASE IN COMPLEX WITH A PYRROLOPYRAZINE |
| 6TJJ | 1.59 | Structure of Cerezyme at pH 4.6 |
| 6TJK | 1.56 | Crystal Structure of Recombinant GBA in Complex with Bis-Tris Propane. |
| 6TJQ | 1.41 | Crystal Structure of Recombinant GBA in Complex with 2-Deoxy-2-fluoro-beta-D-glucopyranoside |
| 6TN1 | 0.98 | Unliganded Crystal Structure of Recombinant GBA |
| 6YTP | 1.7 | Structure of recombinant human beta-glucocerebrosidase in complex with azide tagged cyclophellitol epoxide inhibitor |
| 6YTR | 1.7 | Structure of recombinant human beta-glucocerebrosidase in complex with cyclophellitol aziridine inhibitor |
| 6YUT | 1.76 | Structure of recombinant human beta-glucocerebrosidase in complex with N-acyl functionalised cyclophellitol aziridine |
| 6YV3 | 1.8 | Structure of recombinant human beta-glucocerebrosidase in complex with galacto-configured cyclophellitol aziridine inhibitor |
| 6Z39 | 1.7 | Structure of recombinant human beta-glucocerebrosidase in complex with BODIPY functionalised epoxide activity based probe |
| 6Z3I | 1.8 | Structure of recombinant beta-glucocerebrosidase in complex with bifunctional cyclophellitol aziridine activity based probe |
| 7NWV | 1.86 | Structure of recombinant human beta-glucocerebrosidase in complex with BODIPY Tagged Cyclophellitol activity based probe |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0033077 | T cell differentiation in thymus |
| Biological Process | GO:0019882 | antigen processing and presentation |
| Biological Process | GO:1905037 | autophagosome organization |
| Biological Process | GO:0006914 | autophagy |
| Biological Process | GO:1901805 | beta-glucoside catabolic process |
| Biological Process | GO:0048854 | brain morphogenesis |
| Biological Process | GO:0048469 | cell maturation |
| Biological Process | GO:0009267 | cellular response to starvation |
| Biological Process | GO:0071356 | cellular response to tumor necrosis factor |
| Biological Process | GO:0046513 | ceramide biosynthetic process |
| Biological Process | GO:0021694 | cerebellar Purkinje cell layer formation |
| Biological Process | GO:0008203 | cholesterol metabolic process |
| Biological Process | GO:0008340 | determination of adult lifespan |
| Biological Process | GO:0061436 | establishment of skin barrier |
| Biological Process | GO:0006680 | glucosylceramide catabolic process |
| Biological Process | GO:0071425 | hematopoietic stem cell proliferation |
| Biological Process | GO:0048872 | homeostasis of number of cells |
| Biological Process | GO:0030259 | lipid glycosylation |
| Biological Process | GO:0019915 | lipid storage |
| Biological Process | GO:0072676 | lymphocyte migration |
| Biological Process | GO:0007040 | lysosome organization |
| Biological Process | GO:0014004 | microglia differentiation |
| Biological Process | GO:0061518 | microglial cell proliferation |
| Biological Process | GO:0061744 | motor behavior |
| Biological Process | GO:0043407 | negative regulation of MAP kinase activity |
| Biological Process | GO:0050728 | negative regulation of inflammatory response |
| Biological Process | GO:0032715 | negative regulation of interleukin-6 production |
| Biological Process | GO:0043524 | negative regulation of neuron apoptotic process |
| Biological Process | GO:1901215 | negative regulation of neuron death |
| Biological Process | GO:0031333 | negative regulation of protein-containing complex assembly |
| Biological Process | GO:0050905 | neuromuscular process |
| Biological Process | GO:0051402 | neuron apoptotic process |
| Biological Process | GO:1904925 | positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization |
| Biological Process | GO:1904457 | positive regulation of neuronal action potential |
| Biological Process | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
| Biological Process | GO:0035307 | positive regulation of protein dephosphorylation |
| Biological Process | GO:1903061 | positive regulation of protein lipidation |
| Biological Process | GO:0051247 | positive regulation of protein metabolic process |
| Biological Process | GO:0043243 | positive regulation of protein-containing complex disassembly |
| Biological Process | GO:1903052 | positive regulation of proteolysis involved in protein catabolic process |
| Biological Process | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process |
| Biological Process | GO:0021859 | pyramidal neuron differentiation |
| Biological Process | GO:0032006 | regulation of TOR signaling |
| Biological Process | GO:1905165 | regulation of lysosomal protein catabolic process |
| Biological Process | GO:0016241 | regulation of macroautophagy |
| Biological Process | GO:0051246 | regulation of protein metabolic process |
| Biological Process | GO:0022904 | respiratory electron transport chain |
| Biological Process | GO:0071548 | response to dexamethasone |
| Biological Process | GO:0043627 | response to estrogen |
| Biological Process | GO:0009268 | response to pH |
| Biological Process | GO:0033574 | response to testosterone |
| Biological Process | GO:0097066 | response to thyroid hormone |
| Biological Process | GO:0046512 | sphingosine biosynthetic process |
| Biological Process | GO:0023021 | termination of signal transduction |
| Molecular Function | GO:0004336 | galactosylceramidase activity |
| Molecular Function | GO:0004348 | glucosylceramidase activity |
| Molecular Function | GO:0046527 | glucosyltransferase activity |
| Molecular Function | GO:0005124 | scavenger receptor binding |
| Molecular Function | GO:0005102 | signaling receptor binding |
| Molecular Function | GO:0050295 | steryl-beta-glucosidase activity |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0005783 | endoplasmic reticulum |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0043202 | lysosomal lumen |
| Cellular Component | GO:0005765 | lysosomal membrane |
| Cellular Component | GO:0005764 | lysosome |
| Cellular Component | GO:0005802 | trans-Golgi network |
| InterPro
|
InterPro name |
|---|---|
| IPR001139 | Glycoside hydrolase family 30 |
| IPR017853 | Glycoside hydrolase superfamily |
| IPR033452 | Glycosyl hydrolase family 30, beta sandwich domain |
| IPR033453 | Glycosyl hydrolase family 30, TIM-barrel domain |
| Pfam
|
Pfam name |
|---|---|
| PF02055 | Glycosyl hydrolase family 30 TIM-barrel domain |
| PF17189 | Glycosyl hydrolase family 30 beta sandwich domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1660662 | Glycosphingolipid metabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-390471 | Association of TriC/CCT with target proteins during biosynthesis | Leaf | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Lysosome membrane | ECO:0000269 | PubMed:10781797 |
| Lysosome membrane | ECO:0000269 | PubMed:17187079 |
| Lysosome membrane | ECO:0000269 | PubMed:17897319 |
| Lysosome membrane | ECO:0000269 | PubMed:18022370 |
| Lysosome membrane | ECO:0000269 | PubMed:1848227 |
| HPO ID
|
HPO name |
|---|---|
| HP:0011968 | Feeding difficulties |
| HP:0012378 | Fatigue |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0002322 | Resting tremor |
| HP:0002953 | Vertebral compression fracture |
| HP:0000962 | Hyperkeratosis |
| HP:0001558 | Decreased fetal movement |
| HP:0001399 | Hepatic failure |
| HP:0002808 | Kyphosis |
| HP:0006530 | Abnormal pulmonary interstitial morphology |
| HP:0005340 | Spastic/hyperactive bladder |
| HP:0000565 | Esotropia |
| HP:0001971 | Hypersplenism |
| HP:0001371 | Flexion contracture |
| HP:0000623 | Supranuclear ophthalmoplegia |
| HP:0004382 | Mitral valve calcification |
| HP:0010702 | Increased circulating antibody level |
| HP:0001822 | Hallux valgus |
| HP:0000656 | Ectropion |
| HP:0001653 | Mitral regurgitation |
| HP:0002756 | Pathologic fracture |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0011960 | Substantia nigra gliosis |
| HP:0001332 | Dystonia |
| HP:0000232 | Everted lower lip vermilion |
| HP:0001249 | Intellectual disability |
| HP:0003470 | Paralysis |
| HP:0007957 | Corneal opacity |
| HP:0001698 | Pericardial effusion |
| HP:0005257 | Thoracic hypoplasia |
| HP:0001347 | Hyperreflexia |
| HP:0001718 | Mitral stenosis |
| HP:0002367 | Visual hallucinations |
| HP:0002304 | Akinesia |
| HP:0011590 | Double aortic arch |
| HP:0001511 | Intrauterine growth retardation |
| HP:0000570 | Abnormal saccadic eye movements |
| HP:0000508 | Ptosis |
| HP:0000978 | Bruising susceptibility |
| HP:0001337 | Tremor |
| HP:0000651 | Diplopia |
| HP:0001695 | Cardiac arrest |
| HP:0002362 | Shuffling gait |
| HP:0002170 | Intracranial hemorrhage |
| HP:0007817 | Horizontal supranuclear gaze palsy |
| HP:0007159 | Fluctuations in consciousness |
| HP:0001510 | Growth delay |
| HP:0002119 | Ventriculomegaly |
| HP:0000657 | Oculomotor apraxia |
| HP:0008551 | Microtia |
| HP:0000738 | Hallucinations |
| HP:0031364 | Ecchymosis |
| HP:0002063 | Rigidity |
| HP:0001270 | Motor delay |
| HP:0001873 | Thrombocytopenia |
| HP:0005619 | Thoracolumbar kyphosis |
| HP:0000666 | Horizontal nystagmus |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0004380 | Aortic valve calcification |
| HP:0002020 | Gastroesophageal reflux |
| HP:0001288 | Gait disturbance |
| HP:0007549 | Desquamation of skin soon after birth |
| HP:0001085 | Papilledema |
| HP:0000027 | Azoospermia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0001251 | Ataxia |
| HP:0001882 | Leukopenia |
| HP:0002172 | Postural instability |
| HP:0001260 | Dysarthria |
| HP:0000822 | Hypertension |
| HP:0003745 | Sporadic |
| HP:0002359 | Frequent falls |
| HP:0000225 | Gingival bleeding |
| HP:0012735 | Cough |
| HP:0000823 | Delayed puberty |
| HP:0007975 | Hypometric horizontal saccades |
| HP:0001903 | Anemia |
| HP:0006689 | Bacterial endocarditis |
| HP:0001824 | Weight loss |
| HP:0000486 | Strabismus |
| HP:0002070 | Limb ataxia |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset |
| HP:0000316 | Hypertelorism |
| HP:0002750 | Delayed skeletal maturation |
| HP:0000767 | Pectus excavatum |
| HP:0002619 | Varicose veins |
| HP:0000478 | Abnormality of the eye |
| HP:0000979 | Purpura |
| HP:0005230 | Biliary tract obstruction |
| HP:0001637 | Abnormal myocardium morphology |
| HP:0000325 | Triangular face |
| HP:0000298 | Mask-like facies |
| HP:0001622 | Premature birth |
| HP:0004326 | Cachexia |
| HP:0000238 | Hydrocephalus |
| HP:0025404 | Abnormal visual fixation |
| HP:0003581 | Adult onset |
| HP:0000967 | Petechiae |
| HP:0003394 | Muscle spasm |
| HP:0001263 | Global developmental delay |
| HP:0010543 | Opsoclonus |
| HP:0000347 | Micrognathia |
| HP:0000726 | Dementia |
| HP:0031435 | Monotonic speech |
| HP:0000252 | Microcephaly |
| HP:0000194 | Open mouth |
| HP:0000012 | Urinary urgency |
| HP:0100315 | Lewy bodies |
| HP:0000602 | Ophthalmoplegia |
| HP:0011001 | Increased bone mineral density |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001395 | Hepatic fibrosis |
| HP:0010741 | Pedal edema |
| HP:0001561 | Polyhydramnios |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0004406 | Spontaneous, recurrent epistaxis |
| HP:0000496 | Abnormality of eye movement |
| HP:0003587 | Insidious onset |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002483 | Bulbar signs |
| HP:0001744 | Splenomegaly |
| HP:0031908 | Micrographia |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0000338 | Hypomimic face |
| HP:0200042 | Skin ulcer |
| HP:0001257 | Spasticity |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0001336 | Myoclonus |
| HP:0001058 | Poor wound healing |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0001640 | Cardiomegaly |
| HP:0001268 | Mental deterioration |
| HP:0000211 | Trismus |
| HP:0000605 | Supranuclear gaze palsy |
| HP:0002098 | Respiratory distress |
| HP:0001621 | Weak voice |
| HP:0004322 | Short stature |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0002171 | Gliosis |
| HP:0002104 | Apnea |
| HP:0008064 | Ichthyosis |
| HP:0001394 | Cirrhosis |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0002315 | Headache |
| HP:0000093 | Proteinuria |
| HP:0000463 | Anteverted nares |
| HP:0000421 | Epistaxis |
| HP:0002113 | Pulmonary infiltrates |
| HP:0001522 | Death in infancy |
| HP:0000744 | Low frustration tolerance |
| HP:0004409 | Hyposmia |
| HP:0001250 | Seizure |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001300 | Parkinsonism |
| HP:0001989 | Fetal akinesia sequence |
| HP:0000369 | Low-set ears |
| HP:0003656 | Decreased beta-glucocerebrosidase level |
| HP:0100710 | Impulsivity |
| HP:0000751 | Personality changes |
| HP:0011461 | Fetal onset |
| HP:0004963 | Calcification of the aorta |
| HP:0000713 | Agitation |
| HP:0010803 | Everted upper lip vermilion |
| HP:0000278 | Retrognathia |
| HP:0000160 | Narrow mouth |
| HP:0001265 | Hyporeflexia |
| HP:0002797 | Osteolysis |
| HP:0002067 | Bradykinesia |
| HP:0010307 | Stridor |
| HP:0002375 | Hypokinesia |
| HP:0004975 | Erlenmeyer flask deformity of the femurs |
| HP:0001433 | Hepatosplenomegaly |
| HP:0002240 | Hepatomegaly |
| HP:0007311 | Short stepped shuffling gait |
| HP:0002015 | Dysphagia |
| HP:0006775 | Multiple myeloma |
| HP:0000790 | Hematuria |
| HP:0002360 | Sleep disturbance |
| HP:0004325 | Decreased body weight |
| HP:0002179 | Opisthotonus |
| HP:0002206 | Pulmonary fibrosis |
| HP:0025160 | Abnormal temper tantrums |
| HP:0002592 | Gastric ulcer |
| HP:0002027 | Abdominal pain |
| HP:0002653 | Bone pain |
| HP:0002136 | Broad-based gait |
| HP:0003196 | Short nose |
| HP:0003584 | Late onset |
| HP:0001508 | Failure to thrive |
| HP:0000974 | Hyperextensible skin |
| HP:0001789 | Hydrops fetalis |
| HP:0000746 | Delusions |
| HP:0001876 | Pancytopenia |
| HP:0001276 | Hypertonia |
| HP:0000938 | Osteopenia |
| HP:0100753 | Schizophrenia |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002019 | Constipation |
| HP:0001298 | Encephalopathy |
| HP:0000741 | Apathy |
| HP:0002059 | Cerebral atrophy |
| HP:0001081 | Cholelithiasis |
| HP:0010885 | Avascular necrosis |
| HP:0100660 | Dyskinesia |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0000218 | High palate |
| HP:0002650 | Scoliosis |
| HP:0011950 | Bronchiolitis |
| HP:0003593 | Infantile onset |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication |
| HP:0003811 | Neonatal death |
| HP:0001538 | Protuberant abdomen |
| HP:0012450 | Chronic constipation |
| HP:0002313 | Spastic paraparesis |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0003826 | Stillbirth |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
| HP:0001258 | Spastic paraplegia |
| HP:0011463 | Childhood onset |
| HP:0005280 | Depressed nasal bridge |
| HP:0004934 | Vascular calcification |
| HP:0003676 | Progressive |
| HP:0012389 | Appendicular hypotonia |
| HP:0002758 | Osteoarthritis |
| HP:0002094 | Dyspnea |
| HP:0000716 | Depression |
| HP:0001743 | Abnormality of the spleen |
| HP:0002040 | Esophageal varix |
| HP:0001790 | Nonimmune hydrops fetalis |
| HP:0001252 | Hypotonia |
| HP:0007885 | Slowed horizontal saccades |
| HP:0002039 | Anorexia |
| HP:0001650 | Aortic valve stenosis |
| HP:0007401 | Macular atrophy |
| HP:0002205 | Recurrent respiratory infections |
| HP:0001761 | Pes cavus |
| HP:0001541 | Ascites |
| HP:0000248 | Brachycephaly |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| thrombocytopenia | MONDO:0002049 | D69 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | ||
| lewy body dementia | MONDO:0007488 | G31 | chapter6, Diseases of the nervous system | OMIM:127750 | Orphanet:1648 |
| late-onset parkinson disease | MONDO:0008199 | G20 | chapter6, Diseases of the nervous system | OMIM:168600 | Orphanet:411602 |
| gaucher disease type i | MONDO:0009265 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:230800 | Orphanet:77259 |
| gaucher disease type ii | MONDO:0009266 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:230900 | Orphanet:77260 |
| gaucher disease type iii | MONDO:0009267 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:231000 | Orphanet:77261 |
| gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | MONDO:0009268 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:231005 | Orphanet:2072 |
| gaucher disease perinatal lethal | MONDO:0011945 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:608013 | Orphanet:85212 |