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int64
fibrous histiocytoma, malignant
adenofibroma, malignant
0
dwarfism with tall vertebrae (3-m syndrome)
ddch (severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome)
0
hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
alsp (hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia)
1
uterine cervical neoplasm
cervical cancer, nos
0
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
disorder of peroxisomal alpha-, beta- and omega-oxidation
0
neoplasm of sternum (disease)
tumor of sternum
1
hutchinson summer prurigo
hutchinson-gilford disease
0
squamous cell carcinoma of the ureter
ureter epidermoid carcinoma
1
adenomyoma of the corpus uteri
adenomyoma of uterine corpus
1
spg67
spg73
0
pes dermatophytosis
dermatosis papulosa nigra (morphologic abnormality)
0
male reproductive system disorder
disorder of male reproductive system
1
insulin-dependent diabetes mellitus 15
diabetes mellitus, insulin-dependent, type 10
0
undetermined eoee
isolated ectopia lentis
0
partial trisomy of the long arm of chromosome type 16
telomeric duplication 16p
0
dnmt1-related dementia, deafness, and sensory neuropathy
neuropathy, hereditary motor and sensory, russe type
0
childhood cancer syndrome
turcot syndrome
1
alpha-ketoglutarate dehydrogenase deficiency
dihydrolipoyl dehydrogenase deficiency
0
cataract 33, multiple types; ctrct33
cataract 1 multiple types
0
brachydactyly and intraventricular conduction defect
cardiomelic syndrome type 3
1
chronic otitis media
oms (otitis media, susceptibility to)
0
coffin-siris syndrome caused by mutation in smarca4
smarcb1 coffin-siris syndrome
0
orbit embryonal rhabdomyosarcoma
orbit embryonal rhabdomyosarcoma
1
bullous dystrophy, macular type
corneal dystrophy, epithelial basement membrane; ebmd
0
familial progressive hyper- and hypopigmentation
hyperinsulinemic hypoglycemia (familial hyperinsulinism)
0
prolactin secreting pituitary gland tumor
prolactin secreting tumor of the pituitary
1
sacs (charlevoix-saguenay spastic ataxia)
sca (autosomal dominant cerebellar ataxia)
0
familial nonmedullary thyroid gland carcinoma
follicular thyroid gland carcinoma
0
nakamura osame syndrome
niikawa-kuroki syndrome (Kabuki syndrome)
0
adenoid cystic cancer
cylindroma nos
1
mental retardation, x-linked 14; mrx14
mental retardation, x-linked 103; mrx103
0
mental retardation, autosomal dominant type 43
autosomal dominant intellectual disability-43
1
adenoma of the liver cells
hepatic lipoma
0
penile cancer (penile carcinoma)
penile adenocarcinoma (adenocarcinoma of penis)
0
childhood testicular mixed germ cell neoplasm
childhood testicular mixed embryonal carcinoma and teratoma
0
vaginal cancer
malignant tumor of vagina
1
cervicofacial actinomycosis
chronic actinic dermatitis
0
megalencephaly-cystic leukodystrophy syndrome
macrocephaly with spastic paraplegia and distinctive craniofacial appearance
0
mycobacterium tuberculosis, protection against
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
0
color vision disorder
color vision disorder
1
cataract (disease) caused by mutation in hsf4
cataract, total congenital with posterior sutural opacities in heterozygotes
0
neoplasm of the nasopharynx
malignant neoplasm of nasopharynx
0
coenuriases
bertielliasis
1
familial congenital mirror movements caused by mutation in rad51
facial paresis, hereditary congenital, 2; hcfp2
0
whistling-face syndrome
arthrogryposis, distal, type 2a
1
anencephalus
diencephalic syndrome
0
aluminosis of lung
asbestos dust pneumoconiosis
0
malignant tumor of peritoneum and retroperitoneum
primary peritoneal cancer
0
xq25 microduplication syndrome
chromosome 5q14.3 deletion syndrome
0
choroid plexus papilloma nos (morphologic abnormality)
atypical choroid plexus papilloma
0
vasculature skin disease
ocular vascular disease
0
non-distal tetrasomy 15q
tetrasomy 15q
1
imd8 (severe combined immunodeficiency due to coro1a deficiency)
scid due to coro1a deficiency
1
hennekam lymphangiectasia-lymphedema syndrome 3
loeys-dietz syndrome 3
0
skin cancer stage 0
stage 0 skin cancer ajcc v7
1
adenoacanthoma
adamantinomatous tumor
0
acrania
aplasia cutis congenita (disease)
0
arthritis
unspecified juvenile idiopathic arthritis
0
mitochondrial dna depletion syndrome 13 (encephalomyopathic type)
mtdps15
0
congenital multiple arthrogryposis
arthrogryposis multiplex congenita distal type ii with craniofacial abnormalities
0
nocardia disease or disorder
infection, actinomycetales
0
ihg (iris hypoplasia with glaucoma)
iridogoniodysgenesis type 1
0
synovial sarcoma, monophasic fibrous
synovial sarcoma
0
blastema predominant renal wilms' tumor
classic pulmonary blastoma
0
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
0
strongyloidiasis
intestinal schistosomiasis
0
ap3d1 hermansky-pudlak syndrome
hyperphosphatasia with mental retardation syndrome 3; hpmrs3
0
ahus, susceptibility to, 6
hemolytic uremic syndrome, atypical, susceptibility to, type 6
1
spastic paraplegia with amyotrophy of hands and feet
autosomal recessive pure hereditary spastic paraplegia
0
vesical schistosomiasis
schistosomiasis due to schistosoma haematobium
1
malignant neoplasm of anterior two-thirds of tongue, part unspecified
malignant tumor of tongue
1
leiomyoma of skin
multiple cutaneous and uterine leiomyomas
0
syndrome, prolactin hypersecretion
prolactin secretion, inappropriate
1
marantic endocarditis
nonbacterial thrombotic endocarditis
1
alcohol withdrawal
disorder, alcohol-related
0
non-syndromic x-linked intellectual disability caused by mutation in il1rapl1
abidi x-linked mental retardation syndrome; mrxsab
0
frontotemporal dementia and/or motor neuron disease
frontotemporal degeneration with dementia
0
isolated congenitally uncorrected transposition of the great vessels
congenital anomaly of the great arteries
0
mdst (metaphyseal chondrodysplasia, spahr type)
metaphyseal chondrodysplasia, spahr type
1
gsd due to phosphoglycerate kinase 1 deficiency
pgk1 deficiency
1
animal toxoplasmoses
animal milk fever
0
basal cell skin carcinoma
follicular basal cell carcinoma
0
central hypothyroidism due to trh receptor deficiency
grth (thyroid hormone resistance, generalized, autosomal recessive)
0
leiomyosarcoma of rectum
leiomyosarcoma of the heart
0
crystal arthropathy
crystal arthropathies
1
cataract type 23
cataract type 43
0
gm2-gangliosidosis, adult chronic type
gm2 gangliosidosis, type 1
1
mrd35
mrd40
0
pontocerebellar hypoplasia, type 5
pontocerebellar hypoplasia, type 2d; pch2d
0
distal abd-filaminopathy
autosomal dominant distal myopathy
0
connective tissue neoplasms
fibroma
0
taybi syndrome
takatsuki syndrome
0
alpha heavy chain disease
ham syndrome
0
kidney disease caused by bk polyomavirus
renal tuberculosis
0
azygos continuation of the inferior vena cava
apical ballooning syndrome
0
charcot-marie-tooth disease, axonal, type 2n; cmt2n
cmt2 (charcot-marie-tooth disease type 2)
0
carcinoma of the glottis
glottis carcinoma
1
mental retardation, x-linked, syndromic, raymond type
mental retardation, x-linked, with or without seizures, arx-related
0
branchiootic syndrome type 2
pierre robin sequence associated with branchial archs anomalies
0
hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
developmental delay-hypotonia-extremities hypertrophy syndrome
0
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