monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[mass Obsolete] Entire list of mass obsoletion candidates #6699

Closed nicolevasilevsky closed 9 months ago

nicolevasilevsky commented 1 year ago

The Mondo development team is working on obsoleting the following terms as part of the mass obsoletion effort (from Sept - Nov 2023)

mondo_id label
MONDO:0017447 congenital absence/hypoplasia of thumb
MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension
MONDO:0008406 autosomal recessive Emery-Dreifuss muscular dystrophy
MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures
MONDO:0014753 autosomal recessive optic atrophy
MONDO:0015088 autosomal dominant pure spastic paraplegia
MONDO:0015089 autosomal recessive complex spastic paraplegia
MONDO:0015090 autosomal recessive pure spastic paraplegia
MONDO:0015135 primary immunodeficiency due to a genetic defect in innate immunity
MONDO:0015144 brain inflammatory disease
MONDO:0015145 neurovascular malformation
MONDO:0015179 intestinal disease due to vitamin absorption anomaly
MONDO:0015180 intestinal disease due to fat malabsorption
MONDO:0015207 non-syndromic esophageal malformation
MONDO:0015209 non-syndromic gastroduodenal malformation
MONDO:0015217 non-syndromic developmental defect of the eye
MONDO:0015219 non-syndromic central nervous system malformation
MONDO:0015221 non-syndromic respiratory or mediastinal malformation
MONDO:0015227 non-syndromic limb malformation
MONDO:0015330 overgrowth/obesity syndrome
MONDO:0015334 branchial arch or oral-acral syndrome
MONDO:0015359 autosomal dominant hereditary demyelinating motor and sensory neuropathy
MONDO:0015361 autosomal recessive hereditary demyelinating motor and sensory neuropathy
MONDO:0015365 autosomal dominant hereditary sensory and autonomic neuropathy
MONDO:0015366 autosomal recessive hereditary sensory and autonomic neuropathy
MONDO:0015368 neuro-ophthalmological disease
MONDO:0015385 external auditory canal aplasia/hypoplasia
MONDO:0015412 median facial cleft
MONDO:0015415 oblique facial cleft
MONDO:0015418 lateral facial cleft
MONDO:0015478 paramedian facial cleft
MONDO:0015482 otomandibular dysplasia
MONDO:0015485 primary hereditary glaucoma
MONDO:0015488 predominantly large-vessel vasculitis
MONDO:0015489 predominantly medium-vessel vasculitis
MONDO:0015490 predominantly small-vessel vasculitis
MONDO:0015499 paralytic facial malformation
MONDO:0015503 nose and cavum anomaly
MONDO:0015504 larynx anomaly
MONDO:0015505 tracheal anomaly
MONDO:0015586 benign familial mesial temporal lobe epilepsy
MONDO:0015591 limbic encephalitis associated with antibodies to cell membrane antigens
MONDO:0015619 non-syndromic urogenital tract malformation
MONDO:0015679 autosomal thrombocytopenia with normal platelets
MONDO:0015823 primary immunodeficiency due to a defect in adaptive immunity
MONDO:0015828 uterovaginal malformation
MONDO:0015829 non-syndromic uterovaginal malformation
MONDO:0015837 Unicervical bicornuate uterus
MONDO:0015902 major hypertriglyceridemia
MONDO:0015932 non-syndromic urogenital tract malformation of female
MONDO:0015933 non-syndromic urogenital tract malformation of male
MONDO:0016034 cleft lip with or without cleft palate
MONDO:0016109 autosomal recessive distal myopathy
MONDO:0016114 bulbospinal muscular atrophy of childhood
MONDO:0016115 bulbospinal muscular atrophy of adulthood
MONDO:0016149 qualitative or quantitative defects of merosin
MONDO:0016150 qualitative or quantitative defects of integrin alpha-7
MONDO:0016152 qualitative or quantitative defects of calpain
MONDO:0016154 qualitative or quantitative defects of myotubularin
MONDO:0016157 qualitative or quantitative defects of fukutin
MONDO:0016173 non-paraneoplastic sensory ganglionopathy
MONDO:0016174 paraneoplastic sensory ganglionopathy
MONDO:0016182 qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
MONDO:0016183 qualitative or quantitative defects of protein glycosyltransferase-like
MONDO:0016196 qualitative or quantitative defects of emerin
MONDO:0016200 qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MONDO:0016201 qualitative or quantitative defects of myotilin
MONDO:0016221 temporomandibular joint anomaly
MONDO:0016224 autosomal dominant proximal spinal muscular atrophy
MONDO:0016229 hereditary vascular anomaly
MONDO:0016230 simple vascular malformation
MONDO:0016348 non-genetic cardiac rhythm disease
MONDO:0016355 semilobar holoprosencephaly
MONDO:0016361 isolated hereditary giant platelet disorder
MONDO:0016409 primary congenital hypothyroidism
MONDO:0016428 multiple sclerosis variant
MONDO:0016493 variant of Guillain-Barre syndrome
MONDO:0016494 regional variant of Guillain-Barre syndrome
MONDO:0016495 functional variant of Guillain-Barre syndrome
MONDO:0016518 isolated punctate palmoplantar keratoderma
MONDO:0016520 isolated Klippel-Feil syndrome
MONDO:0016536 autosomal recessive lymphoproliferative disease
MONDO:0016589 progressive cerebello-cerebral atrophy
MONDO:0016592 non-hereditary degenerative ataxia
MONDO:0016599 autosomal dominant secondary polycythemia
MONDO:0016647 autosomal recessive Stickler syndrome
MONDO:0016678 maternal disease-related embryofetopathy
MONDO:0016744 primary melanocytic tumor of central nervous system
MONDO:0016794 maternally-inherited mitochondrial myopathy
MONDO:0016797 multiple mitochondrial DNA deletion syndrome
MONDO:0016803 unspecified inborn mitochondrial disorder
MONDO:0016805 isolated oxidative phosphorylation complex disorder
MONDO:0016815 Leigh syndrome with leukodystrophy
MONDO:0016816 Leigh syndrome with nephrotic syndrome
MONDO:0017027 primary interstitial lung disease specific to adulthood
MONDO:0017036 Langerhans cell histiocytosis in childhood and adulthood
MONDO:0017059 neural tube closure defect
MONDO:0017090 midline cerebral malformation
MONDO:0017131 hereditary cardiac anomaly
MONDO:0017173 non-syndromic male infertility due to sperm motility disorder
MONDO:0017218 septopreoptic holoprosencephaly
MONDO:0017270 autosomal ichthyosis syndrome
MONDO:0017302 qualitative or quantitative defects of troponin
MONDO:0017421 non-syndromic terminal limb defects
MONDO:0017429 joint formation defects
MONDO:0017430 non-syndromic congenital joint dislocations
MONDO:0017431 non-syndromic limb overgrowth
MONDO:0017448 congenital absence/hypoplasia of fingers excluding thumb
MONDO:0017629 sodium channelopathy-related small fiber neuropathy
MONDO:0017651 primary myoclonus
MONDO:0017656 motor stereotypies
MONDO:0017676 marginal papular palmoplantar keratoderma
MONDO:0017709 disorder of lipid absorption and transport
MONDO:0017710 congenital systemic veins anomaly
MONDO:0017742 disorder of O-xylosylglycan synthesis
MONDO:0017743 disorder of O-N-acetylgalactosaminylglycan synthesis
MONDO:0017744 disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
MONDO:0017745 disorder of O-mannosylglycan synthesis
MONDO:0017828 primary renal tubular acidosis
MONDO:0017912 X-linked pure spastic paraplegia
MONDO:0017914 pure or complex autosomal dominant spastic paraplegia
MONDO:0017915 pure or complex autosomal recessive spastic paraplegia
MONDO:0017916 pure or complex X-linked spastic paraplegia
MONDO:0017950 microcephalic primordial dwarfism
MONDO:0017954 pyogenic autoinflammatory syndrome
MONDO:0018112 isolated scaphocephaly
MONDO:0018113 isolated plagiocephaly
MONDO:0018144 congenital myasthenic syndromes with glycosylation defect
MONDO:0018185 congenital anomaly of the great veins
MONDO:0018191 tumor of testis and paratestis
MONDO:0018222 X-linked intellectual disability due to GRIA3 anomalies
MONDO:0018240 TRPV4-related bone disorder
MONDO:0018241 primary short bowel syndrome
MONDO:0018277 congenital muscular dystrophy with cerebellar involvement
MONDO:0018279 congenital muscular dystrophy without intellectual disability
MONDO:0018283 primary qualitative or quantitative defects of alpha-dystroglycan
MONDO:0018292 congenital disorder of glycosylation-related bone disorder
MONDO:0018318 disorder of asparagine metabolism
MONDO:0018329 persistent combined dystonia
MONDO:0018337 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
MONDO:0018384 avascular necrosis of genetic origin
MONDO:0018385 osteochondrosis of genetic origin
MONDO:0018393 male infertility with azoospermia or oligozoospermia due to single gene mutation
MONDO:0018451 X-linked distal hereditary motor neuropathy
MONDO:0018529 qualitative or quantitative defects of Torsin-1A-interacting protein 1
MONDO:0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
MONDO:0018575 microcephalic primordial dwarfism-insulin resistance syndrome
MONDO:0018579 disorder of ketone body transport
MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
MONDO:0018640 secondary vasculitis
MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome
MONDO:0018743 immune-mediated acquired neuromuscular junction disease
MONDO:0018745 superficial pemphigus
MONDO:0018771 congenital anomaly of ventricular septum
MONDO:0018788 COL4A1 or COL4A2-related cerebral small vessel disease
MONDO:0018791 Moyomoya angiopathy
MONDO:0019044 tumor of hematopoietic and lymphoid tissues
MONDO:0019054 congenital limb malformation
MONDO:0019063 vascular anomaly
MONDO:0019138 bleeding diathesis due to a collagen receptor defect
MONDO:0019176 trichorhinophalangeal syndrome type I or III
MONDO:0019224 inborn disorder of gamma-aminobutyric acid metabolism
MONDO:0019227 inborn disorder of glycerol metabolism
MONDO:0019277 epidermal appendage anomaly
MONDO:0019286 sebaceous gland anomaly
MONDO:0019486 myoclonic epilepsy of infancy
MONDO:0019513 esophageal malformation
MONDO:0019541 non-infectious posterior uveitis
MONDO:0019599 primary lipodystrophy
MONDO:0019688 sulfation-related bone disorder
MONDO:0019689 perlecan-related bone disorder
MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia
MONDO:0019693 multiple metaphyseal dysplasia
MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia
MONDO:0019699 slender bone dysplasia
MONDO:0019712 patellar dysostosis
MONDO:0019713 non-syndromic limb reduction defect
MONDO:0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy
MONDO:0019718 lethal chondrodysplasia
MONDO:0019720 non-syndromic renal or urinary tract malformation
MONDO:0019724 secondary glomerular disease
MONDO:0019743 nephropathy secondary to a storage or other metabolic disease
MONDO:0019758 midline interhemispheric variant of holoprosencephaly
MONDO:0019831 congenital anomaly of the coronary sinus
MONDO:0019844 pituitary hormone deficiency secondary to storage disease
MONDO:0019998 gastroduodenal malformation
MONDO:0019999 intestinal malformation
MONDO:0020018 cranial malformation
MONDO:0020019 digestive tract malformation
MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen
MONDO:0020069 chronic encephalitis
MONDO:0020081 macrophage or histiocytic tumor
MONDO:0020084 lymphoproliferative disease associated with primary immune disease
MONDO:0020093 autosomal dominant isolated diffuse palmoplantar keratoderma
MONDO:0020096 autosomal recessive isolated diffuse palmoplantar keratoderma
MONDO:0020130 malformation of the cerebellar vermis
MONDO:0020131 malformation of the cerebellar hemispheres
MONDO:0020133 posterior fossa malformation
MONDO:0020145 developmental defect of the eye
MONDO:0020146 major induction processes eye anomaly
MONDO:0020154 microblepharon-ablephara syndrome
MONDO:0020155 eyelid border anomaly
MONDO:0020160 secondary entropion
MONDO:0020162 secondary ectropion
MONDO:0020163 canthal anomaly
MONDO:0020164 epicanthal fold
MONDO:0020167 malposition of external canthus
MONDO:0020174 precancerous lesion of palpebral epidermis
MONDO:0020178 palpebral lentiginosis
MONDO:0020193 secretory apparatus of the lacrimal system anomaly
MONDO:0020195 excretory apparatus of the lacrimal system anomaly
MONDO:0020203 pigmented conjunctival lesion
MONDO:0020205 bulbar conjunctival dermoid or conjunctival dermolipoma
MONDO:0020216 secondary dysgenetic glaucoma
MONDO:0020235 lens size anomaly
MONDO:0020237 lens shape anomaly
MONDO:0020275 oculocutaneous or ocular albinism
MONDO:0020284 heart position anomaly
MONDO:0020285 transposition of the great arteries and conotruncal cardiac anomaly
MONDO:0020287 pulmonary artery or pulmonary branch anomaly
MONDO:0020339 X-linked complex spastic paraplegia
MONDO:0020345 presynaptic congenital myasthenic syndrome
MONDO:0020506 ovarioleukodystrophy
MONDO:0020524 primary parathyroid hyperplasia
MONDO:0020537 occupational allergic alveolitis
MONDO:0022397 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
MONDO:0022399 retinal ciliopathy due to mutation in the RPGR gene
MONDO:0022400 retinal ciliopathy due to mutation in the RPGRIP gene
MONDO:0022404 retinal ciliopathy due to mutation in Usher gene
MONDO:0022405 retinal ciliopathy due to mutation in nephronophthisis gene
MONDO:0022407 retinal ciliopathy due to mutation in Bardet-Biedl gene
MONDO:0022409 nephropathy-associated ciliopathy
MONDO:0024471 non-inflammatory vasculopathy
MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome
MONDO:0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
MONDO:0034669 non-syndromic preaxial polydactyly
MONDO:0034670 non-syndromic postaxial polydactyly
MONDO:0034671 non-syndromic complex polydactyly
MONDO:0034872 large granular lymphocyte leukemia
MONDO:0035002 isolated inherited retinal disorder
MONDO:0035014 primary orthostatic disorder
MONDO:0035075 secondary early-onset glaucoma of genetic origin
MONDO:0035162 PIK3CA-related overgrowth syndrome
MONDO:0035561 sporadic human prion disease
MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome
MONDO:0044655 c12orf65-related combined oxidative phosphorylation defect
MONDO:0800084 primary bone dysplasia with increased bone density
MONDO:0800086 primary bone dysplasia with multiple joint dislocations
MONDO:0800087 type 11 collagen-related bone disorder
MONDO:0800089 primary bone dysplasia with disorganized development of skeletal components
MONDO:0800091 overgrowth or tall stature syndrome with skeletal involvement
MONDO:0017423 split hand or/and split foot malformation
MONDO:0015111 gastroesophageal disease
MONDO:0015130 acquired chronic primary adrenal insufficiency
MONDO:0015132 immunodeficiency predominantly affecting antibody production
MONDO:0015133 quantitative and/or qualitative congenital phagocyte defect
MONDO:0015141 disorder of medulla oblongata
MONDO:0015178 congenital intestinal transport defect
MONDO:0015208 syndromic esophageal malformation
MONDO:0015210 syndromic gastroduodenal malformation
MONDO:0015211 non-syndromic intestinal malformation
MONDO:0015212 syndromic intestinal malformation
MONDO:0015213 non-syndromic visceral malformation
MONDO:0015214 syndromic visceral malformation
MONDO:0015222 syndromic respiratory or mediastinal malformation
MONDO:0015310 syndromic optic nerve hypoplasia
MONDO:0015323 teratogenic Pierre Robin syndrome
MONDO:0015337 isolated craniosynostosis
MONDO:0015338 syndromic craniosynostosis
MONDO:0015470 familial isolated dilated cardiomyopathy
MONDO:0015497 hypoglossia/aglossia
MONDO:0015508 hereditary parenchymatous liver disease
MONDO:0015617 hereditary gastro-esophageal disease
MONDO:0015620 syndromic urogenital tract malformation
MONDO:0015668 hereditary dentin defect
MONDO:0015682 primary peritoneal tumor
MONDO:0015683 primary malignant peritoneal tumor
MONDO:0015765 congenital myopathy with cores
MONDO:0015777 adult hypothyroidism
MONDO:0015778 syndromic hypothyroidism
MONDO:0015817 aggressive primary cutaneous T-cell lymphoma
MONDO:0015818 aggressive primary cutaneous B-cell lymphoma
MONDO:0015822 acquired neutropenia
MONDO:0015846 syndromic uterovaginal malformation
MONDO:0015852 excess breast volume or number
MONDO:0015853 deficient breast volume or number
MONDO:0015860 anomaly of puberty or/and menstrual cycle
MONDO:0015915 cerebellar malformation
MONDO:0015921 ARX-related epileptic encephalopathy
MONDO:0015930 respiratory malformation
MONDO:0015950 inherited skin tumor
MONDO:0015961 hereditary head and neck malformation
MONDO:0015975 hyper-IgM syndrome with susceptibility to opportunistic infections
MONDO:0015976 hyper-IgM syndrome without susceptibility to opportunistic infections
MONDO:0016054 cerebral malformation
MONDO:0016072 anomaly of puberty or/and menstrual cycle of genetic origin
MONDO:0016116 generalized bulbospinal muscular atrophy
MONDO:0016121 congenital myotonia
MONDO:0016125 infectious, fungal or parasitic myopathy
MONDO:0016169 chronic acquired demyelinating polyneuropathy
MONDO:0016170 chronic polyradiculoneuropathy
MONDO:0016172 acquired sensory ganglionopathy
MONDO:0016179 acquired amyloid peripheral neuropathy
MONDO:0016352 idiopathic inherited hypercalciuria
MONDO:0016375 acquired peripheral movement disorder
MONDO:0016434 acquired dermis elastic tissue disorder
MONDO:0016524 congenital vascular bone syndrome
MONDO:0016565 syndromic genetic obesity
MONDO:0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis
MONDO:0016701 oligoastrocytic tumor
MONDO:0016708 embryonal tumor of neuroepithelial tissue
MONDO:0016721 pineal tumor of neuroepithelial tissue
MONDO:0016726 neuronal tumor
MONDO:0016738 primary germ cell tumor of central nervous system
MONDO:0016756 inherited nervous system cancer-predisposing syndrome
MONDO:0016899 Duchenne and Becker muscular dystrophy
MONDO:0016980 ATR-X-related syndrome
MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome
MONDO:0017057 hereditary thrombocytopenia with normal platelets
MONDO:0017104 central nervous system cystic malformation
MONDO:0017114 global cerebellar malformation
MONDO:0017127 inherited soft tissue tumor
MONDO:0017128 inherited digestive tract tumor
MONDO:0017129 inherited cardiac tumor
MONDO:0017132 hereditary ATTR amyloidosis
MONDO:0017234 inherited prion disease
MONDO:0017240 acrodysostosis with multiple hormone resistance
MONDO:0017241 AP4-related intellectual disability and spastic paraplegia
MONDO:0017262 inherited non-syndromic ichthyosis
MONDO:0017263 inherited ichthyosis syndromic form
MONDO:0017397 constitutional dyserythropoietic anemia
MONDO:0017420 intercalary limb defects
MONDO:0017422 adactyly of hand
MONDO:0017428 congenital deformities of fingers
MONDO:0017581 familial infantile gigantism
MONDO:0017667 isolated diffuse palmoplantar keratoderma
MONDO:0017670 autosomal dominant diffuse mutilating palmoplantar keratoderma
MONDO:0017673 isolated focal palmoplantar keratoderma
MONDO:0017756 disorder of pterin metabolism
MONDO:0017891 inherited renal cancer-predisposing syndrome
MONDO:0017922 deafness-onychodystrophy syndrome
MONDO:0017955 granulomatous autoinflammatory syndrome
MONDO:0017961 46,XX disorder of gonadal development
MONDO:0017962 46,XX disorder of sex development induced by fetoplacental androgens excess
MONDO:0017963 46,XX disorder of sex development induced by endogenous maternal-derived androgen
MONDO:0017964 46,XX disorder of sex development induced by exogenous maternal-derived androgen
MONDO:0017966 46,XY disorder of gonadal development
MONDO:0017969 46,XY disorder of sex development of endocrine origin
MONDO:0017974 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors
MONDO:0018114 isolated brachycephaly
MONDO:0018187 hereditary syndromic Pierre Robin syndrome
MONDO:0018188 hereditary intestinal polyposis
MONDO:0018239 aggrecan-related bone disorder
MONDO:0018246 homozygous 2p21 microdeletion syndrome
MONDO:0018262 fetal anticonvulsant syndrome
MONDO:0018340 hereditary isolated aplastic anemia
MONDO:0018454 dysostosis of genetic origin
MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum
MONDO:0018532 adenocarcinoma of liver and intrahepatic biliary tract
MONDO:0018538 inherited digestive cancer-predisposing syndrome
MONDO:0018562 hereditary otorhinolaryngological malformation
MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome
MONDO:0018701 congenital nemaline myopathy
MONDO:0018720 common cystic lymphatic malformation
MONDO:0018758 familial patent arterial duct
MONDO:0018779 hypercontractile muscle stiffness syndrome
MONDO:0018782 type 1 interferonopathy
MONDO:0018796 isolated constitutional thrombocytopenia
MONDO:0018831 HTRA1-related cerebral small vessel disease
MONDO:0018888 congenital cornea plana
MONDO:0018916 isolated anorectal malformation
MONDO:0019126 intractable diarrhea of infancy
MONDO:0019150 familial isolated restrictive cardiomyopathy
MONDO:0019213 cerebral organic aciduria
MONDO:0019271 acrokeratoderma
MONDO:0019281 isolated genetic hair shaft abnormality
MONDO:0019292 dermis elastic tissue disorder
MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
MONDO:0019520 syndromic lymphedema
MONDO:0019593 46,XX disorder of sex development induced by fetal androgens excess
MONDO:0019597 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
MONDO:0019608 46,XX disorder of sex development induced by maternal-derived androgen
MONDO:0019619 duplication of the esophagus
MONDO:0019723 disease of glomerular basement membrane
MONDO:0019800 chronic hepatic porphyria
MONDO:0019816 anomaly of the tricuspid subvalvular apparatus
MONDO:0019822 arterial duct anomaly
MONDO:0019826 abnormal origin or aberrant course of coronary artery
MONDO:0019837 atrial appendage anomaly
MONDO:0020023 respiratory or mediastinal malformation
MONDO:0020039 46,XX disorder of sex development induced by androgens excess
MONDO:0020118 dense granule disease
MONDO:0020125 acquired neuromuscular junction disease
MONDO:0020132 cranial nerve and nuclear aplasia
MONDO:0020144 cerebrovascular dementia
MONDO:0020147 anophthalmia-microphthalmia syndrome
MONDO:0020148 syndromic aniridia
MONDO:0020156 syndromic ankyloblepharon
MONDO:0020157 syndromic palpebral coloboma
MONDO:0020158 eyelids malposition disorder
MONDO:0020165 syndromic epicanthus
MONDO:0020176 palpebral sebaceous gland tumor
MONDO:0020177 pigmented palpebral tumor
MONDO:0020180 palpebral piliary tumor
MONDO:0020181 mesenchymatous palpebral tumor
MONDO:0020194 congenital alacrima
MONDO:0020196 anomaly of the secretory and excretory apparatus of the lacrimal system
MONDO:0020197 EEC syndrome and related syndrome
MONDO:0020210 syndromic hyperopia
MONDO:0020211 syndromic keratoconus
MONDO:0020215 syndromic corneal dystrophy
MONDO:0020219 corneogoniodysgenesis
MONDO:0020238 inherited vitreous-retinal disease
MONDO:0020240 syndromic retinitis pigmentosa
MONDO:0020256 congenital trochlear nerve palsy
MONDO:0020286 aortic malformation
MONDO:0020288 atrioventricular valve anomaly
MONDO:0020293 ascending aorta anomaly
MONDO:0020294 atrial defect and interatrial communication
MONDO:0020343 alpha-crystallinopathy
MONDO:0020346 synaptic congenital myasthenic syndrome
MONDO:0020375 coralliform cataract
MONDO:0020392 discrete fixed membranous subaortic stenosis
MONDO:0021034 hereditary alopecia
MONDO:0025511 inherited neuroendocrine tumor
MONDO:0028618 gastroenteric neuroendocrine neoplasm
MONDO:0033947 hereditary angioedema with normal C1Inh
MONDO:0034661 syndromic biliary atresia
MONDO:0034901 ATP13A2-related parkinsonism
MONDO:0034954 syndromic vitreoretinopathy
MONDO:0035645 inherited gynecological cancer-predisposing syndrome
MONDO:0035682 fibrous dysplasia/McCune-Albright syndrome
MONDO:0035684 epidermolysis bullosa simplex without extracutaneous involvement
MONDO:0035685 epidermolysis bullosa simplex with extracutaneous involvement
MONDO:0035689 syndrome of reduced sensitivity to thyroid hormone
MONDO:0036192 EN1-related dorsoventral syndrome
MONDO:0038268 autoimmune neurological channelopathy
MONDO:0100189 apolipoprotein A-I deficiency
MONDO:0100343 antenatal Bartter syndrome
MONDO:0800075 dysostosis with predominant vertebral with and without costal involvement
MONDO:0800085 dysostosis with predominant craniofacial involvement
MONDO:0800090 ectrodactyly with and without other manifestations
MONDO:0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy
MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations
MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations
MONDO:0800095 syndrome with synostosis or other joint formation defect
MONDO:0957001 hereditary mixed dermis disorder
MONDO:0957009 hereditary posterior fossa malformation
MONDO:0957024 hereditary 46,XX disorder of sex development
MONDO:0957025 hereditary 46,XY disorder of sex development
MONDO:0015509 hereditary biliary tract disease
MONDO:0015182 congenital enteropathy involving intestinal mucosa development
MONDO:0015360 autosomal dominant hereditary axonal motor and sensory neuropathy
MONDO:0018775 axonal hereditary motor and sensory neuropathy
MONDO:0016667 sickle cell disease associated with an other hemoglobin anomaly
MONDO:0017146 sickle cell disease and related diseases
MONDO:0016513 alpha-thalassemia-related diseases
MONDO:0017144 alpha-thalassemia and related diseases
MONDO:0017030 interstitial lung disease in childhood and adulthood
MONDO:0017031 primary interstitial lung disease in childhood and adulthood
MONDO:0017034 secondary interstitial lung disease in childhood and adulthood
MONDO:0017040 exposure-related interstitial lung disease
MONDO:0017760 disorder of other vitamins and cofactors metabolism and transport
MONDO:0015246 syndromic anorectal malformation
MONDO:0015979 hereditary predisposition to infections
nicolevasilevsky commented 9 months ago

@sabrinatoro this can be closed, yes?

sabrinatoro commented 9 months ago

yes, i think it can. Thank you!