Releases: monarch-initiative/mondo
Releases · monarch-initiative/mondo
2018-10-14 release
- reclassified MONDO:0019079 ‘proximal spinal muscular atrophy’ a subclass of MONDO:0001516 ‘spinal muscular atrophy’ and fixed typos in def of MONDO:0001516 ‘s #350
- added new term MONDO_0100062 'developmental and epileptic encephalopathy' closes #332
- Fixes #271
- renamed MONDO_0015967 to monogenic diabetes closes #337
- added new term MONDO_0100061 'PRPS1 deficiency disorder' closes #358
- replaced superclass for 'Huntington disease' closes #358
- Performed sync with multiple sources
- added new monogenic diseases
- gap-filled neoplasm classes
- added new term: MONDO_0100059 'hypereosinophilia of undetermined sign…' #272
- merged terms Ito hypomelanosis (MONDO:0010302) & incontinentia pigmenti achromians (MONDO:0006562). #351
Obsoletions
- obsolete incontinentia pigmenti achromians
- obsolete favism, susceptibility to
- obsolete giant platelet syndrome with thrombocytopenia
New Classes
- premalignant hematological system disease
- classic congenital adrenal hyperplasia
- hypereosinophilia of undetermined significance
- PRPS1 deficiency disorder
- developmental and epileptic encephalopathy
- congenital anemia
- congenital hematological disorder
- oocyte maturation defect 5
- methemoglobinemia, alpha type
- spermatogenic failure 30
- intellectual disability, autosomal recessive 65
- mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
- ovarian dysgenesis 7
- bone marrow failure syndrome 4
- spermatogenic failure 32
- Liddle syndrome 2
- encephalitis/encephalopathy, mild, with reversible myelin vacuolization
- spermatogenic failure 31
- pulmonary alveolar proteinosis with hypogammaglobulinemia
- osteopetrosis, autosomal dominant 3
- mental retardation, autosomal dominant 58
- mental retardation, autosomal recessive 64
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5
- neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- immunodeficiency 57
- obsolete blood group--ok
- obsolete blood group, mn
- obsolete blood group system, landsteiner-wiener
- obsolete blood group--lutheran system
- obsolete blood group--lke
- obsolete blood group, kidd system
- obsolete blood group--kell system
- obsolete blood group, diego system
- obsolete blood group, langereis system
- obsolete blood group--private systems
- sex-linked disease
- X-linked recessive disease
- X-linked dominant disease
- X-linked chondrodysplasia punctata 2
- Simpson-Golabi-Behmel syndrome type 1
- mosquito-borne viral encephalitis
- acute pharyngitis
- obsolete blood group, colton system
- obsolete blood group--ahonen
- Liddle syndrome 1
- epileptic encephalopathy, infantile or early childhood, 2
- epileptic encephalopathy, infantile or early childhood, 1
- epileptic encephalopathy, infantile or early childhood, 3
- obsolete blood group, ss
- microcephaly, growth restriction, and increased sister chromatid exchange 2
- epileptic encephalopathy, infantile or early childhood
- obsolete yt blood group antigen
- obsolete blood group--wright antigen
- obsolete blood group--waldner type
- obsolete blood group--ul system
- obsolete blood group--stoltzfus system
- obsolete blood group--scianna system
- microcephaly, growth restriction and increased sister chromatid exchange
- cutaneous vasculitis
- polymorphic ventricular tachycardia
- central nervous system nongerminomatous germ cell tumor
- mucositis
- obsolete vitamin D deficiency
- childhood gonadal germ cell tumor
- mycobacterial infectious disease
- malabsorption syndrome
- angiokeratoma of scrotum
- mucin-producing carcinoma
- disease of retroperitoneum
- abducens nerve disease
- trichoblastoma
- disease pf pharynx
- disease of peritoneum
- acquired coagulation factor deficiency
- factor XI deficiency
- factor V deficiency
- anemia due to erythrocyte enzyme disorder
- anemia due to enzyme disorder
- chromosome 17 abnormality
- benign uterine ligament neoplasm
- benign pecoma
- germinomatous germ cell tumor
- cardiac germ cell tumor
- lung pecoma
2018-09-26 release
2018-09-10 release
New classes
- phenytoin toxicity
- hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency
- Jaberi-Elahi syndrome
- developmental delay, intellectual disability, obesity, and dysmorphic features
- deafness, congenital heart defects, and posterior embryotoxon
- tumoral calcinosis, hyperphosphatemic, familial, 2
- tumoral calcinosis, hyperphosphatemic, familial, 3
- spondyloepimetaphyseal dysplasia, di rocco type
- neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
- Ververi-Brady syndrome
- neurodevelopmental disorder with spasticity and poor growth
- spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
- neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
- intellectual developmental disorder with or without epilepsy or cerebellar ataxia
- tetraamelia syndrome 2
- humerofemoral hypoplasia with radiotibial ray deficiency
- congenital disorder of glycosylation with defective fucosylation
- neurodevelopmental disorder with brain, liver, and lung abnormalities
- glycosylphosphatidylinositol biosynthesis defect 17
- protoporphyria, erythropoietic, 2
- intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
- neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
- intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
- tetraamelia syndrome 1
- immunodeficiency, developmental delay, and hypohomocysteinemia
- Sweeney-Cox syndrome
- actn3 deficiency
- neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
- auditory neuropathy and optic atrophy
- platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
- neuronopathy, distal hereditary motor, type 9
- facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- neurodevelopmental disorder with microcephaly, ataxia, and seizures
- neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
- helix syndrome
- Pilarowski-Bjornsson syndrome
- Alkuraya-Kucinskas syndrome
- neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- neurodevelopmental disorder with severe motor impairment and absent language
- neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
- glycosylphosphatidylinositol biosynthesis defect 15
- neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
- combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- amyotrophic lateral sclerosis, susceptibility to, 25
- epilepsy, juvenile myoclonic, susceptibility to, 10
- chromosome 1p35 deletion syndrome
- Diamond-Blackfan anemia-like
- congenital heart defects, multiple types, 5
- neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- Leber congenital amaurosis with early-onset deafness
- neurodevelopmental disorder with poor language and loss of hand skills
- neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
- neurodevelopmental disorder with or without seizures and gait abnormalities
- neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
- short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- X-linked congenital hemolytic anemia
- cerebral sclerosis, diffuse, scholz type
- autoinflammation with arthritis and dyskeratosis
- neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
- neurodevelopmental disorder with involuntary movements
- neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- arthrogryposis multiplex congenita, neurogenic, with myelin defect
- 46,XX sex reversal 4
- Cohen-Gibson syndrome
- neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- retinal dystrophy with or without macular staphyloma
- polydactyly, postaxial, type a7
- cerebellar atrophy, developmental delay, and seizures
- vertebral, cardiac, renal, and limb defects syndrome 1
- vertebral, cardiac, renal, and limb defects syndrome 2
- joint laxity, short stature, and myopia
- congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- congenital heart defects and skeletal malformations syndrome
- microcephaly, short stature, and limb abnormalities
- maleylacetoacetate isomerase deficiency
- benign neoplasm of peripheral nervous system
- benign peripheral nerve granular cell tumor
- non-small cell squamous lung carcinoma
- synovial bursa disease
- sulfur metabolism disease
- liver adenosquamous carcinoma
- vulvar neuroendocrine carcinoma
- rectal adenosquamous carcinoma
- skin adenosquamous carcinoma
- hormone-resistant breast carcinoma
- hormone-resistant prostate carcinoma
- nasal cavity and paranasal sinus carcinoma
- amyotonia congenita
- nasal cavity and paranasal sinus neoplasm
- bronchiolitis obliterans organizing pneumonia
- [obstructive nephropathy](http://purl.obolibrar...
v2018-09-04
New classes
- osteogenic neoplasm
- cancer-related condition
- cortical cataract
- benign osteogenic neoplasm
- nuclear cataract
- cribriform carcinoma of breast
- delirium
- ACTH-producing pituitary gland neoplasm
- glycogen-rich carcinoma
- grade II meningioma
- intraductal cribriform breast adenocarcinoma
- infectious diarrheal disease
- congenital secretory diarrhea
- non-infectious diarrheal disease
- systemic basidiobolomycosis
- hyalohyphomycosis
- cutaneous basidiobolomycosis
- opportunistic infectious
- primary infectious
- opportunistic systemic mycosis
- infectious disease characteristic
- localized
- disease of uterine broad ligament
- locational disease characteristic
- toxemia of pregnancy
- hypermature cataract
- inherited thyroid metabolism disease
- neurosarcoidosis
- ligament disease
- selective IgG immunodeficiency
- obsolete Deuteromycetes infectious disease
2018-08-24 release
2018-08-24 release
New classes
Addition of UBERON and GO grouping classes
- nasolacrimal duct disease
- face disease
- lymphoid system disease
- foot disease
- hip disease
- sympathetic nervous system disease
- cerebral cortex disease
- parasympathetic nervous system disease
- hand disease
- mouth mucosa disease
- upper digestive tract disease
- carpal region disease
- midbrain disease
- scalp disease
- ligament disease
- vertebral disease
- scrotal disease
- cardiac ventricle disease
- cholesterol metabolism disease
- glycoprotein metabolism disease
- cholesterol biosynthetic process disease
- creatine biosynthetic process disease
- carbohydrate transport disease
- cholesterol catabolic process disease
- disease of extraembryonic membrane
- tetrahydrobiopterin metabolic process disease
- keratinization disease
- steroid metabolism disease
- lactation disease
- glycine metabolic process disease
- sucrose intolerance disease
- disorder of organic acid metabolism
- acquired adrenogenital syndrome
2018-08-19 release
2018-08-19 release
Summary
- The upper level has been refactored to provide a more intuitive top down view
- Additional equivalence axioms to ONCOTREE
- Filter redundant mapping from SKOS relationships, fixes #282
New classes
- pulmonary branch stenosis
- myelofibrosis
- metastatic squamous cell carcinoma
- bladder urothelial papilloma
- metastatic malignant neoplasm in the eye
- extrarenal rhabdoid tumor
- salivary duct carcinoma
- metastatic malignant neoplasm in the spinal cord
- T-lymphoblastic lymphoma
- malignant renal pelvis neoplasm
- paranasal sinus mucoepidermoid carcinoma
- oral cavity carcinoma
- acute myeloid leukemia with mutated CEBPA
- oropharyngeal carcinoma
- atypical lymphoproliferative disorder
- acute myeloid leukemia with mutated NPM1
- rectal carcinoma
- benign lipomatous neoplasm
- drug pseudoallergy
- pseudoallergy
- disease of signal transduction
- disease of membrane bound organelle
- abdominal and pelvic region disorder
- oral cavity mucoepidermoid carcinoma
- limb disorder
- eosinophil disease
- disease of macromolecular complex
- disease of supramolecular complex
- mitochondrial disease
- disease by cell type
- disease of catalytic activity
- disease of transporter activity
- disease of cell nucleus
- disease of receptor activity
- desmoplastic spitz nevus
- early onset primary dystonia
- inherited dystonia
- acquired idiopathic torsion dystonia
- familial idiopathic torsion dystonia
- idiopathic torsion dystonia
- childhood myelodysplastic syndrome
- dysautonomia
- coronary microvascular disease
- refractory cytopenia of childhood
- dystonia, focal, task-specific
- acquired torsion dystonia
- paraneoplastic cerebellar degeneration
- drug hypersensitivity syndrome
- pancreatic mucinous-cystic neoplasm
- adult germ cell tumor
- torsion dystonia
- tonsillar lymphoma
- tonsillar lipoma
- cystic tumor of the pancreas
- hematopoietic and lymphoid cell neoplasm
- central nervous system non-hodgkin lymphoma
- high grade B-cell lymphoma
- X-linked congenital stationary night blindness
- anaplasmosis in cattle
- human anaplasmosis
- zoonotic bacterial infection
- chronic diarrheal disease
- lumbar spinal stenosis
- lassa virus infectious disease
- desmoplastic melanoma
- myxoma
- nasal cavity and paranasal sinus squamous cell carcinoma
- solid pseudopapillary neoplasm of the pancreas
- nephrotic syndrome of childhood - steroid sensitive
- solid papillary breast carcinoma
- esophageal ulcer
- digital papillary eccrine carcinoma
- perihilar intrahepatic cholangiocarcinoma
- obsolete congenital melanocytic nevus
- spindle cell nevus
- epithelioid cell nevus
- desmoplastic nevus
- large congenital melanocytic nevus
- combined hepatocellular carcinoma and cholangiocarcinoma
- benign melanocytic skin nevus
- spitz nevus
- diarrheal disease secondary to decreased bowel motility
- diarrheal disease secondary to increased bowel motility
- steroid-resistant nephrotic syndrome
- benign choroid plexus neoplasm
- childhood adrenal gland pheochromocytoma
- obsolete Marfan Syndrome 3
- vagus nerve paraganglioma
- premature ovarian failure 10
- nodular lymphocyte predominant Hodgkin lymphoma
- premature ovarian failure 14
2018-08-03 release
2018-08-03 Release
This release includes more complete mappings to UMLS/MEDGEN
- idiopathic mast cell activation syndrome
- acetazolamide-responsive hereditary episodic ataxia
- tendinopathy
- tendinosis
- paratenonitis
- paratenonitis with tendinosis
- mast cell activation syndrome
- primary mast cell activation syndrome
- secondary mast cell activation syndrome
- obsolete apocrine gland secretion, variation 1n
- obsolete radin blood group antigen
- obsolete defective interfering particle induction, control of
- obsolete creatine kinase, brain type, ectopic expression of
- obsolete blood group, 1 system
- obsolete blood group, p1pk system
- obsolete blood group--lutheran inhibitor
- obsolete eegbqtl
- obsolete dimples, facial
- obsolete epiblepharon of lower 51d
- obsolete hsr
- obsolete hrm2
- obsolete hypercholesterolemia suppressor
- obsolete hepatitis b vaccine, response to
- obsolete eyebrow, whorl 1n
- obsolete epiblepharon of upper 51d
- obsolete hair whorl
- obsolete fingers, relative length of
- obsolete median-ulnar nerve communications
- obsolete lunulae of fingernails
- episodic kinesigenic dyskinesia
- T+ B+ severe combined immunodeficiency
- Shwachman-Diamond syndrome 1
- foveal hypoplasia
- T-B+ severe combined immunodeficiency
- disorder of lectin complement activation pathway
- otospondylomegaepiphyseal dysplasia, autosomal recessive
- Shwachman-Diamond syndrome 2
- specific granule deficiency 2
- specific granule deficiency 1
- acute idiopathic urticaria
- chronic idiopathic urticaria
- obsolete arm folding preference
- obsolete androstenone, ability to smell
- idiopathic urticaria
- thalassemia minor
- obsolete asparagus, specific smell hypersensitivity
- obsolete artichoke, modification of taste by
- obsolete blood group, duffy system
- obsolete beeturia
- obsolete ec1
- obsolete cyanide, inability to smell
- obsolete menoq1
- obsolete transsexuality
- obsolete gcy
- obsolete novelty seeking personality trait
- obsolete radial loop, plain, on right index finger
- obsolete lutheran suppressor, x-linked
- obsolete xm system
- obsolete tooth size
- obsolete bone mineral density quantitative trait locus 1
- obsolete bilirubin, serum level of, quantitative trait locus 1
- obsolete hypertension, diastolic, resistance to
- obsolete body mass index quantitative trait locus 9
- obsolete bone mineral density quantitative trait locus 15
- obsolete short sleeper
- obsolete carotid intimal medial thickness 1
- obsolete hemoglobin, high altitude adaptation
- obsolete uric acid concentration, serum, quantitative trait locus 4
- obsolete skin/hair/eye pigmentation, variation in, 11
- obsolete musical perfect pitch
- obsolete nystagmus, voluntary
- obsolete nailbeds, pigmentation of
- obsolete thiourea tasting
- obsolete palmomental reflex
- obsolete mydriasis, congenital
- obsolete mydriatic response to pharmacologic agents
- obsolete nail low-sulfur protein
- obsolete nail high-sulfur protein
- obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1
- obsolete australia antigen
- obsolete tongue curling, folding, or rolling
- obsolete lutheran null
- obsolete skin/hair/eye pigmentation, variation in, 5
- obsolete skin/hair/eye pigmentation, variation in, 2
- obsolete methane production
- obsolete dermatoglyphics--palmar triradius d, absence of
- obsolete skin/hair/eye pigmentation, variation in, 6
- obsolete skin/hair/eye pigmentation, variation in, 1
- obsolete dermatoglyphics--hypothenar radial arch
- obsolete blood group, vel system
- obsolete c3hex, ability to smell
- obsolete blood group, gerbich system
- obsolete body mass index quantitative trait locus 18
- obsolete glycerol quantitative trait locus
- myasthenic syndrome, congenital, 22
- paranasal sinus squamous cell carcinoma
- oropharynx squamous cell carcinoma
- childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- sin3a-related intellectual disability syndrome due to a point mutation
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
- cochleovestibular dysplasia
- lip and oral cavity squamous cell carcinoma
- stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- metopic ridging-ptosis-facial dysmorphism syndrome
- alkaline ceramidase 3 deficiency
- 4q25 proximal deletion syndrome
- mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- erythema multiforme major
- salivary gland squamous cell carcinoma
- [major saliva...
2018-07-16 release
2018-07-16 Release
This release includes more complete mappings to external ontologies and databases
- peripheral ischemia
- functional disorder of bladder neck and sphincter mechanism
- carcinoid crisis
- endometrial hyperplasia
- polymorphic light eruption
- Rowell syndrome
- contact dermatitis caused by poison oak
- mixed anxiety and depressive disorder
- postherpetic neuralgia
- central retinal vein occlusion with macular edema
- malignant otitis externa caused by Pseudomonas aeruginosa
- fibrosis of bile duct
- thallium poisoning
- bacterial meningitis caused by gram-negative bacteria
- staphylococcus aureus pneumonia
- pneumonia caused by gram negative bacteria
- gonococcal infection of joint
- multibacillary leprosy
- paucibacillary leprosy
- twin reversal arterial perfusion syndrome
- intraoperative floppy iris syndrome
- drug-resistant tuberculosis
- ST-elevation myocardial infarction
- pregnancy disorder with abortive outcome
- Far-East scarlet-like fever
- mesenteric lymphadenitis due to Yersinia infection
- toxic amblyopia
- functional visual loss
- metastasis from malignant tumor of colon
- metastatic malignant neoplasm in the colon
- acute epiglottitis
- primary motor cortex epilepsy
- diphtheritic myocarditis
- disorder of acid-base balance
- acute papillary necrosis
- disseminated
- tertiary lesion of yaws
- endomyometritis
- Trichinella spiralis infectious disease
- mycotic endocarditis
- infective arthritis
- polyposis syndrome, hereditary mixed, 1
- uterine cervix carcinoma in situ
- Cestode infectious disease
- disseminated sporotrichosis
- disease susceptibility
- neutropenia, severe congenital, 1, autosomal dominant
- cervical squamous intraepithelial neoplasia
- ergotism
- mycotoxicosis
- Ruzicka-Goerz-Anton syndrome
- benign familial neonatal-infantile seizures 1
- null
- gastric non-hodgkin lymphoma
- childhood malignant melanoma
- arteriosclerotic retinopathy
- Yersinia enterocolitica infectious disease
- disseminated candidiasis
- Vagneur-Triolle-Ripert syndrome
- Say-Carpenter syndrome
- Schaap-Taylor-Baraitser syndrome
- Schwartz-Cohen-addad-Lambert syndrome
- Schlegelberger-Grote syndrome
- Schrander-stumpel-Theunissen-Hulsmans syndrome
- Schmitt-Gillenwater-Kelly syndrome
- Sackey-Sakati-Aur syndrome
- sacral hemangiomas multiple congenital abnormalities
- inherited mitral valve disease
- rheumatic disease of mitral valve
- partial duplication of chromosome 12
- partial duplication of the long arm of chromosome 12
- Slti-Salem syndrome
- wandering spleen
- Machado-Joseph disease type 4
- Machado-Joseph disease type 5
- disorder of glutamate decarboxylase
- congenital herpes virus infection
- meningococcemia
- trichoepithelioma, multiple familial, 1
- null
- hypokalemic periodic paralysis, type 1
- familial osteosclerosis
- parainfluenza virus type 3 infectious disease
- pseudoachondroplastic dysplasia 2
- vitamin b deficiency
- Saal-Bulas syndrome
- Westphal disease
- aortic valve stenosis
- GATA2 deficiency with susceptibility to MDS/AML
- neurocutaneous syndrome
- macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations
- macrogyria, pseudobulbar palsy and mental retardation
- sacrococcygeal teratoma
- prostatic malacoplakia associated with prostatic abscess
- Saul-Wilkes-Stevenson syndrome
- Sanderson-Fraser syndrome
- Sandhaus-Ben-Ami syndrome
- Y chromosome infertility due to DAZ1 deletion
- Sammartino-Decreccio syndrome
- Samson-Gardner syndrome
- Samson-Viljoen syndrome
- mediastinal diseases
- lytic metastatic bone lesion
- osteoradionecrosis
- multiple organ failure
- Monteggia's fracture
- respiratory paralysis
- radiodermatitis
- rhinophyma
- sclerema neonatorum
- serositis
- serum sickness
- abdominal ectopic pregnancy
- tubal pregnancy
- presbycusis
- thrombocytopenic purpura
- spinal cord injuries
- pathologic fracture
- herpes labialis
- alcoholic liver diseases
- chromosome inversion
- ...
2018-06-25 release
New classes:
- autoimmune gastritis
- autoimmune uveitis
- autoimmune optic neuritis
- adolescent/adult-onset epilepsy syndrome
- autosomal dominant epilepsy with auditory features
- familial temporal lobe epilepsy syndrome
- metabolic epilepsy
- cerebral folate deficiency
- structural epilepsy
- variable age onset epilepsy
- atypical childhood epilepsy with centrotemporal spikes
- photosensitive occipital lobe epilepsy
- neonatal/infantile epilepsy syndrome
- self-limited familial and non-familial neonatal seizures
- self-limited familial and non-familial infantile seizures
- epilepsy of infancy with migrating focal seizures
- myoclonic encephalopathy in non-progressive disorder
- febrile seizures plus, genetic epilepsy with febrile seizures plus
- immune epilepsy
- antibody mediated epilepsy
- food protein-induced enterocolitis syndrome
- adrenal cortex neoplasm
- ovarian sertoli-leydig cell tumor
- spleen neoplasm
- rhabdomyoma
- rare childhood malignant neoplasm
- retinitis pigmentosa 81
- short-rib thoracic dysplasia 18 with polydactyly
- charcot-marie-tooth disease, dominant intermediate G
- childhood malignant kidney neoplasm
- refractory malignant neoplasm
- benign ovarian mucinous tumor
- benign epithelial neoplasm
- benign leydig cell tumor
- lymphatic vessel neoplasm
- axillary neoplasm
- benign axillary neoplasm
- malignant phyllodes tumor
- benign phyllodes tumor
- congenital anomalies of kidney and urinary tract type 2
- amyotrophic lateral sclerosis type 23
- Kleefstra syndrome 1
- autosomal recessive cutis laxa type 2c
- autosomal recessive cutis laxa type 2d
- autosomal recessive dyskeratosis congenita 4
- malignant central nervous system mesenchymal, non-meningothelial neoplasm
- endometrioid stromal and related neoplasms
- mediastinal soft tissue cancer
- peritoneal solitary fibrous tumor
- cauda equina cancer
- benign neoplasm of cauda equina
- sebaceous gland cancer
- infratentorial neoplasm
- serous neoplasm
- childhood testicular neoplasm
- congestive splenomegaly
- thecoma
- ovarian thecoma
- transitional cell neoplasm
- ovarian serous tumor
- generalized lipodystrophy
- partial lipodystrophy
- lung germ cell tumor
- lung colloid adenocarcinoma
- spinocerebellar ataxia 47
- spinocerebellar ataxia 46
- spinocerebellar ataxia 45
- leukodystrophy, hypomyelinating, 14
- short-rib thoracic dysplasia 19 with or without polydactyly
- erythrocytosis, familial, 5
- spinocerebellar ataxia 44
- fibromatosis, gingival, 5
- coffin-siris syndrome 6
- joubert syndrome 32
- joubert syndrome 30
- schizophrenia 19
- joubert syndrome 33
- joubert syndrome 31
- epileptic encephalopathy, early infantile, 52
- epileptic encephalopathy, early infantile, 60
- epileptic encephalopathy, early infantile, 59
- epileptic encephalopathy, early infantile, 58
- epileptic encephalopathy, early infantile, 57
- epileptic encephalopathy, early infantile, 56
- epileptic encephalopathy, early infantile, 55
- epileptic encephalopathy, early infantile, 54
- epileptic encephalopathy, early infantile, 53
- epileptic encephalopathy, early infantile, 63
- epileptic encephalopathy, early infantile, 62
- epileptic encephalopathy, early infantile, 61
- orofaciodigital syndrome 17
- epileptic encephalopathy, early infantile, 65
- epileptic encephalopathy, early infantile, 64
- deafness, autosomal recessive 107
- deafness, autosomal recessive 106
- ciliary dyskinesia, primary, 37
- nephrotic syndrome 14
- deafness, autosomal recessive 109
- deafness, autosomal recessive 57
- deafness, autosomal recessive 108
- nephrotic syndrome 15
- deafness, autosomal dominant 34, with or without inflammation
- deafness, autosomal dominant 73
- deafness, autosomal dominant 72
- deafness, autosomal dominant 71
- multiple mitochondrial dysfunctions syndrome 5
- polycystic kidney disease 5
- nephrotic syndrome 16
- ichthyosis, congenital, autosomal recessive 13
- ichthyosis, congenital, autosomal recessive 14
- exudative vitreoretinopathy 7
- spinocerebellar ataxia, autosomal recessive 26
- spinocerebellar ataxia, autosomal recessive 25
- Galloway-Mowat syndrome 5
- Galloway-Mowat syndrome 4
- Galloway-Mowat syndrome 3
- [Galloway-Mowat syndrome 2, X-linked]...