v2023-08-02

Overview:

• Number of new terms: 1
• Number of changed labels: 3
• Number of changed definitions: 18
• Number obsoleted terms: 10
• Number of new obsoletion candidates: 230
• Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:1010000	pythiosis	A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007062	adactylia, unilateral	congenital absence/hypoplasia of fingers excluding thumb, unilateral	adactylia, unilateral
MONDO:0008409	congenital myopathy 7A, myosin storage, autosomal dominant	MYH7-related late-onset scapuloperoneal muscular dystrophy	congenital myopathy 7A, myosin storage, autosomal dominant
MONDO:0044635	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0002113	peritoneal carcinoma	A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.	A peritoneum cancer that is located in the inside of the abdomen.
MONDO:0015686	primary peritoneal carcinoma	Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma.	A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.
MONDO:0007062	adactylia, unilateral	Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).	A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
MONDO:0008346	pulmonary hemosiderosis	Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.	A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
MONDO:0008458	spinocerebellar ataxia type 2	Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.	A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
MONDO:0008675	Freeman-Sheldon syndrome	Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.	A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
MONDO:0008843	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.	A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
MONDO:0009835	subacute sclerosing panencephalitis	Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.	A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.
MONDO:0011191	capillary infantile hemangioma	Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover. Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported.	Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover.
MONDO:0013646	chromosome 8q21.11 deletion syndrome	8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.	Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
MONDO:0014165	multiple congenital anomalies-hypotonia-seizures syndrome 3	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.	A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
MONDO:0018875	Li-Fraumeni syndrome	Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).	A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).
MONDO:0019100	neuromyelitis optica	Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.	A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.
MONDO:0025510	pythiosis, non-human animal	A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.	A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, and fishes. It is classified into three forms: ocular, cutaneous, and arterial.
MONDO:0044688	isolated optic neuritis		A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.
MONDO:0044687	chronic relapsing inflammatory optic neuropathy		A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.
MONDO:0044689	recurrent idiopathic neuroretinitis		A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.
MONDO:0044690	optic perineuritis		A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.

Obsolete terms

Mondo ID	Label
MONDO:0007761	obsolete hyperlipoproteinemia type IV
MONDO:0007903	obsolete Li-Fraumeni syndrome 1
MONDO:0010859	obsolete atrioventricular septal defect 3
MONDO:0011333	obsolete light fixation seizure syndrome
MONDO:0012018	obsolete myopathy, myosin storage, autosomal dominant
MONDO:0012233	obsolete Li-Fraumeni syndrome 2
MONDO:0012279	obsolete congenital muscular dystrophy merosin-positive
MONDO:0019765	obsolete celosomia
MONDO:0020342	obsolete congenital myopathy with excess of thin filaments
MONDO:0100300	obsolete hereditary capillary infantile hemangioma

New obsoletion candidates

Mondo ID	Label
MONDO:0015334	branchial arch or oral-acral syndrome
MONDO:0015412	median facial cleft
MONDO:0015503	nose and cavum anomaly
MONDO:0020162	secondary ectropion
MONDO:0020285	transposition of the great arteries and conotruncal cardiac anomaly
MONDO:0017745	disorder of O-mannosylglycan synthesis
MONDO:0017270	autosomal ichthyosis syndrome
MONDO:0016072	anomaly of puberty or/and menstrual cycle of genetic origin
MONDO:0025511	inherited neuroendocrine tumor
MONDO:0019224	inborn disorder of gamma-aminobutyric acid metabolism
MONDO:0020157	syndromic palpebral coloboma
MONDO:0020167	malposition of external canthus
MONDO:0015144	brain inflammatory disease
MONDO:0016738	primary germ cell tumor of central nervous system
MONDO:0018532	adenocarcinoma of liver and intrahepatic biliary tract
MONDO:0020125	acquired neuromuscular junction disease
MONDO:0017742	disorder of O-xylosylglycan synthesis
MONDO:0018292	congenital disorder of glycosylation-related bone disorder
MONDO:0016494	regional variant of Guillain-Barre syndrome
MONDO:0016726	neuronal tumor
MONDO:0015682	primary peritoneal tumor
MONDO:0015683	primary malignant peritoneal tumor
MONDO:0015818	aggressive primary cutaneous B-cell lymphoma
MONDO:0019063	vascular anomaly
MONDO:0019286	sebaceous gland anomaly
MONDO:0015950	inherited skin tumor
MONDO:0017131	hereditary cardiac anomaly
MONDO:0020294	atrial defect and interatrial communication
MONDO:0015620	syndromic urogenital tract malformation
MONDO:0019054	congenital limb malformation
MONDO:0017240	acrodysostosis with multiple hormone resistance
MONDO:0019271	acrokeratoderma
MONDO:0017448	congenital absence/hypoplasia of fingers excluding thumb
MONDO:0016565	syndromic genetic obesity
MONDO:0020215	syndromic corneal dystrophy
MONDO:0018771	congenital anomaly of ventricular septum
MONDO:0020148	syndromic aniridia
MONDO:0020156	syndromic ankyloblepharon
MONDO:0016229	hereditary vascular anomaly
MONDO:0015385	external auditory canal aplasia/hypoplasia
MONDO:0020286	aortic malformation
MONDO:0015852	excess breast volume or number
MONDO:0015214	syndromic visceral malformation
MONDO:0020018	cranial malformation
MONDO:0017429	joint formation defects
MONDO:0020145	developmental defect of the eye
MONDO:0020165	syndromic epicanthus
MONDO:0015338	syndromic craniosynostosis
MONDO:0017670	autosomal dominant diffuse mutilating palmoplantar keratoderma
MONDO:0017756	disorder of pterin metabolism
MONDO:0018731	lethal multiple congenital anomalies/dysmorphic syndrome
MONDO:0015930	respiratory malformation
MONDO:0020023	respiratory or mediastinal malformation
MONDO:0015822	acquired neutropenia
MONDO:0007607	Birt-Hogg-Dube syndrome
MONDO:0019520	syndromic lymphedema
MONDO:0015846	syndromic uterovaginal malformation
MONDO:0016375	acquired peripheral movement disorder
MONDO:0020093	autosomal dominant isolated diffuse palmoplantar keratoderma
MONDO:0015359	autosomal dominant hereditary demyelinating motor and sensory neuropathy
MONDO:0015361	autosomal recessive hereditary demyelinating motor and sensory neuropathy
MONDO:0018795	syndromic constitutional thrombocytopenia
MONDO:0020195	excretory apparatus of the lacrimal system anomaly
MONDO:0015504	larynx anomaly
MONDO:0017127	inherited soft tissue tumor
MONDO:0020211	syndromic keratoconus
MONDO:0015210	syndromic gastroduodenal malformation
MONDO:0020235	lens size anomaly
MONDO:0020176	palpebral sebaceous gland tumor
MONDO:0020240	syndromic retinitis pigmentosa
MONDO:0020205	bulbar conjunctival dermoid or conjunctival dermolipoma
MONDO:0015213	non-syndromic visceral malformation
MONDO:0017128	inherited digestive tract tumor
MONDO:0008347	idiopathic and/or familial pulmonary arterial hypertension
MONDO:0015853	deficient breast volume or number
MONDO:0008406	autosomal recessive Emery-Dreifuss muscular dystrophy
MONDO:0015310	syndromic optic nerve hypoplasia
MONDO:0018782	type 1 interferonopathy
MONDO:0017914	pure or complex autosomal dominant spastic paraplegia
MONDO:0016224	autosomal dominant proximal spinal muscular atrophy
MONDO:0800095	syndrome with synostosis or other joint formation defect
MONDO:0020163	canthal anomaly
MONDO:0015679	autosomal thrombocytopenia with normal platelets
MONDO:0015208	syndromic esophageal malformation
MONDO:0015180	intestinal disease due to fat malabsorption
MONDO:0017969	46,XY disorder of sex development of endocrine origin
MONDO:0019593	46,XX disorder of sex development induced by fetal androgens excess
MONDO:0008807	apnea, central sleep
MONDO:0015222	syndromic respiratory or mediastinal malformation
MONDO:0016114	bulbospinal muscular atrophy of childhood
MONDO:0020237	lens shape anomaly
MONDO:0015212	syndromic intestinal malformation
MONDO:0015211	non-syndromic intestinal malformation
MONDO:0015366	autosomal recessive hereditary sensory and autonomic neuropathy
MONDO:0015778	syndromic hypothyroidism
MONDO:0015323	teratogenic Pierre Robin syndrome
MONDO:0015179	intestinal disease due to vitamin absorption anomaly
MONDO:0018384	avascular necrosis of genetic origin
MONDO:0017961	46,XX disorder of gonadal development
MONDO:0015130	acquired chronic primary adrenal insufficiency
MONDO:0100343	antenatal Bartter syndrome
MONDO:0020096	autosomal recessive isolated diffuse palmoplantar keratoderma
MONDO:0017915	pure or complex autosomal recessive spastic paraplegia
MONDO:0016152	qualitative or quantitative defects of calpain
MONDO:0016109	autosomal recessive distal myopathy
MONDO:0018743	immune-mediated acquired neuromuscular junction disease
MONDO:0017129	inherited cardiac tumor
MONDO:0015089	autosomal recessive complex spastic paraplegia
MONDO:0014753	autosomal recessive optic atrophy
MONDO:0020069	chronic encephalitis
MONDO:0020287	pulmonary artery or pulmonary branch anomaly
MONDO:0017744	disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
MONDO:0020210	syndromic hyperopia
MONDO:0018496	ARX-related encephalopathy-brain malformation spectrum
MONDO:0020216	secondary dysgenetic glaucoma
MONDO:0017916	pure or complex X-linked spastic paraplegia
MONDO:0018222	X-linked intellectual disability due to GRIA3 anomalies
MONDO:0017912	X-linked pure spastic paraplegia
MONDO:0016980	ATR-X-related syndrome
MONDO:0020339	X-linked complex spastic paraplegia
MONDO:0019227	inborn disorder of glycerol metabolism
MONDO:0015921	ARX-related epileptic encephalopathy
MONDO:0016196	qualitative or quantitative defects of emerin
MONDO:0016154	qualitative or quantitative defects of myotubularin
MONDO:0016115	bulbospinal muscular atrophy of adulthood
MONDO:0017966	46,XY disorder of gonadal development
MONDO:0015415	oblique facial cleft
MONDO:0020146	major induction processes eye anomaly
MONDO:0020346	synaptic congenital myasthenic syndrome
MONDO:0015088	autosomal dominant pure spastic paraplegia
MONDO:0019714	non-syndromic polydactyly, syndactyly and/or hyperphalangy
MONDO:0100189	apolipoprotein A-I deficiency
MONDO:0019486	myoclonic epilepsy of infancy
MONDO:0020180	palpebral piliary tumor
MONDO:0017302	qualitative or quantitative defects of troponin
MONDO:0016200	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MONDO:0018239	aggrecan-related bone disorder
MONDO:0020343	alpha-crystallinopathy
MONDO:0016201	qualitative or quantitative defects of myotilin
MONDO:0015090	autosomal recessive pure spastic paraplegia
MONDO:0018550	spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
MONDO:0016599	autosomal dominant secondary polycythemia
MONDO:0018144	congenital myasthenic syndromes with glycosylation defect
MONDO:0015133	quantitative and/or qualitative congenital phagocyte defect
MONDO:0015586	benign familial mesial temporal lobe epilepsy
MONDO:0018788	COL4A1 or COL4A2-related cerebral small vessel disease
MONDO:0017241	AP4-related intellectual disability and spastic paraplegia
MONDO:0016536	autosomal recessive lymphoproliferative disease
MONDO:0018277	congenital muscular dystrophy with cerebellar involvement
MONDO:0018279	congenital muscular dystrophy without intellectual disability
MONDO:0016150	qualitative or quantitative defects of integrin alpha-7
MONDO:0015418	lateral facial cleft
MONDO:0044655	c12orf65-related combined oxidative phosphorylation defect
MONDO:0016647	autosomal recessive Stickler syndrome
MONDO:0019138	bleeding diathesis due to a collagen receptor defect
MONDO:0019597	46,XY disorder of sex development due to isolated 17,20-lyase deficiency
MONDO:0017709	disorder of lipid absorption and transport
MONDO:0013742	familial mesial temporal lobe epilepsy with febrile seizures
MONDO:0015365	autosomal dominant hereditary sensory and autonomic neuropathy
MONDO:0018318	disorder of asparagine metabolism
MONDO:0018579	disorder of ketone body transport
MONDO:0018529	qualitative or quantitative defects of Torsin-1A-interacting protein 1
MONDO:0020293	ascending aorta anomaly
MONDO:0019513	esophageal malformation
MONDO:0019998	gastroduodenal malformation
MONDO:0019999	intestinal malformation
MONDO:0020181	mesenchymatous palpebral tumor
MONDO:0015398	hemifacial microsomia
MONDO:0015478	paramedian facial cleft
MONDO:0016034	cleft lip with or without cleft palate
MONDO:0015777	adult hypothyroidism
MONDO:0015817	aggressive primary cutaneous T-cell lymphoma
MONDO:0015860	anomaly of puberty or/and menstrual cycle
MONDO:0020147	anophthalmia-microphthalmia syndrome
MONDO:0016125	infectious, fungal or parasitic myopathy
MONDO:0016149	qualitative or quantitative defects of merosin
MONDO:0016157	qualitative or quantitative defects of fukutin
MONDO:0016172	acquired sensory ganglionopathy
MONDO:0016179	acquired amyloid peripheral neuropathy
MONDO:0016182	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
MONDO:0016183	qualitative or quantitative defects of protein glycosyltransferase-like
MONDO:0016221	temporomandibular joint anomaly
MONDO:0016434	acquired dermis elastic tissue disorder
MONDO:0016495	functional variant of Guillain-Barre syndrome
MONDO:0020288	atrioventricular valve anomaly
MONDO:0016701	oligoastrocytic tumor
MONDO:0016721	pineal tumor of neuroepithelial tissue
MONDO:0016725	pineal parenchymal tumor of intermediate differenciation
MONDO:0017288	DICER1 syndrome
MONDO:0017422	adactyly of hand
MONDO:0017447	congenital absence/hypoplasia of thumb
MONDO:0017506	congenital absence/hypoplasia of thumb, unilateral
MONDO:0017507	congenital absence/hypoplasia of thumb, bilateral
MONDO:0017508	congenital absence/hypoplasia of fingers excluding thumb, bilateral
MONDO:0017710	congenital systemic veins anomaly
MONDO:0018185	congenital anomaly of the great veins
MONDO:0017743	disorder of O-N-acetylgalactosaminylglycan synthesis
MONDO:0017962	46,XX disorder of sex development induced by fetoplacental androgens excess
MONDO:0020039	46,XX disorder of sex development induced by androgens excess
MONDO:0017963	46,XX disorder of sex development induced by endogenous maternal-derived androgen
MONDO:0019608	46,XX disorder of sex development induced by maternal-derived androgen
MONDO:0017964	46,XX disorder of sex development induced by exogenous maternal-derived androgen
MONDO:0017974	46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors
MONDO:0020284	heart position anomaly
MONDO:0019822	arterial duct anomaly
MONDO:0020177	pigmented palpebral tumor
MONDO:0019277	epidermal appendage anomaly
MONDO:0020081	macrophage or histiocytic tumor
MONDO:0020019	digestive tract malformation
MONDO:0020155	eyelid border anomaly
MONDO:0019816	anomaly of the tricuspid subvalvular apparatus
MONDO:0019826	abnormal origin or aberrant course of coronary artery
MONDO:0019831	congenital anomaly of the coronary sinus
MONDO:0019837	atrial appendage anomaly
MONDO:0020164	epicanthal fold
MONDO:0020193	secretory apparatus of the lacrimal system anomaly
MONDO:0020196	anomaly of the secretory and excretory apparatus of the lacrimal system
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:0034661	syndromic biliary atresia
MONDO:0034901	ATP13A2-related parkinsonism
MONDO:0034954	syndromic vitreoretinopathy
MONDO:0035075	secondary early-onset glaucoma of genetic origin
MONDO:0035689	syndrome of reduced sensitivity to thyroid hormone
MONDO:0036042	KAT6B-related multiple congenital anomalies syndrome
MONDO:0038268	autoimmune neurological channelopathy

Terms that were previously candidate for obsoletion and are now not anymore

Mondo ID	Label
MONDO:0024677	pancreatic insulinoma