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Disease association ontology term - MONDO:0002254 - syndromic disease

Term summary

ID
MONDO:0002254
Name
syndromic disease
Ontology or CV name
Disease association
Definition
A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.

Parents

Annotation

Disease association

MONDO:0014352 - abdominal obesity-metabolic syndrome 3

References:

Genes:

MONDO:0700299 - ACTH-independent macronodular adrenal hyperplasia 3

References:

Genes:

MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

References:

Genes:

MONDO:0012429 - Aicardi-Goutieres syndrome 2

References:

Genes:

MONDO:0012471 - Aicardi-Goutieres syndrome 3

References:

Genes:

MONDO:0012472 - Aicardi-Goutieres syndrome 4

References:

Genes:

MONDO:0014007 - Aicardi-Goutieres syndrome 6

References:

Genes:

MONDO:0012282 - Al-Gazali syndrome

References:

Genes:

MONDO:0014219 - alacrima, achalasia, and intellectual disability syndrome

References:

Genes:

MONDO:0958001 - Alfadhel syndrome

References:

Genes:

MONDO:0030009 - alopecia-intellectual disability syndrome 4

References:

Genes:

MONDO:0018965 - Alport syndrome

References:

Genes:

MONDO:0009185 - amelocerebrohypohidrotic syndrome

References:

Genes:

MONDO:0012794 - ANE syndrome

References:

Genes:

MONDO:0008726 - Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

References:

Genes:

MONDO:0009025 - apparent mineralocorticoid excess

References:

Genes:

MONDO:0010284 - Armfield syndrome

References:

Genes:

MONDO:0008822 - arthrogryposis, renal dysfunction, and cholestasis 1

References:

Genes:

MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome

References:

Genes:

MONDO:0010533 - Arts syndrome

References:

Genes:

MONDO:0859575 - Atelis syndrome 1

References:

Genes:

MONDO:0859576 - Atelis syndrome 2

References:

Genes:

MONDO:0700270 - ATM-related cancer predisposition

References:

Genes:

MONDO:0013767 - autoimmune lymphoproliferative syndrome type 4

References:

Genes:

MONDO:8000024 - autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

References:

Genes:

MONDO:0013944 - autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

References:

Genes:

MONDO:0007420 - autosomal dominant deafness - onychodystrophy syndrome

References:

Genes:

MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

References:

Genes:

MONDO:0014702 - autosomal recessive complex spastic paraplegia type 9B

References:

Genes:

MONDO:0027353 - autosomal recessive dyskeratosis congenita 4

References:

Genes:

MONDO:0009486 - autosomal recessive Kenny-Caffey syndrome

References:

Genes:

MONDO:0018422 - autosomal recessive spastic paraplegia type 70

References:

Genes:

MONDO:0014975 - autosomal recessive spastic paraplegia type 78

References:

Genes:

MONDO:0012243 - B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

References:

Genes:

MONDO:0009039 - Baller-Gerold syndrome

References:

Genes:

MONDO:0013812 - Baraitser-winter syndrome 2

References:

Genes:

MONDO:0800445 - Birt-Hogg-Dube syndrome 1

References:

Genes:

MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

References:

Genes:

MONDO:0011365 - blepharophimosis - intellectual disability syndrome, SBBYS type

References:

Genes:

MONDO:0008876 - Bloom syndrome

References:

Genes:

MONDO:0009806 - Bruck syndrome 1

References:

Genes:

MONDO:0012728 - Brugada syndrome 2

References:

Genes:

MONDO:0008157 - Buschke-Ollendorff syndrome

References:

Genes:

MONDO:0010829 - CARASIL syndrome

References:

Genes:

MONDO:0015280 - cardiofaciocutaneous syndrome

References:

Genes:

MONDO:0007265 - cardiofaciocutaneous syndrome 1

References:

Genes:

MONDO:0014112 - cardiofaciocutaneous syndrome 2

References:

Genes:

MONDO:0014113 - cardiofaciocutaneous syndrome 3

References:

Genes:

MONDO:0014114 - cardiofaciocutaneous syndrome 4

References:

Genes:

MONDO:0012137 - Carney complex - trismus - pseudocamptodactyly syndrome

References:

Genes:

MONDO:0011740 - Carney-Stratakis syndrome

References:

Genes:

MONDO:0009595 - cartilage-hair hypoplasia

References:

Genes:

MONDO:0013411 - cataract 16 multiple types

References:

Genes:

MONDO:0958178 - cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

References:

Genes:

MONDO:0958193 - cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

References:

Genes:

MONDO:0014104 - cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

References:

Genes:

MONDO:0035819 - cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

References:

Genes:

MONDO:0014768 - cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

References:

Genes:

MONDO:0007301 - cerebrocostomandibular syndrome

References:

Genes:

MONDO:0008955 - cerebrooculofacioskeletal syndrome 1

References:

Genes:

MONDO:0012553 - cerebrooculofacioskeletal syndrome 2

References:

Genes:

MONDO:0014696 - cerebrooculofacioskeletal syndrome 3

References:

Genes:

MONDO:0012554 - cerebrooculofacioskeletal syndrome 4

References:

Genes:

MONDO:0013644 - Charcot-Marie-Tooth disease axonal type 2O

References:

Genes:

MONDO:0008960 - Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

References:

Genes:

MONDO:0008963 - Chediak-Higashi syndrome

References:

Genes:

MONDO:0010621 - CHILD syndrome

References:

Genes:

MONDO:0010221 - CHIME syndrome

References:

Genes:

MONDO:0030810 - cholestasis, progressive familial intrahepatic, 10

References:

Genes:

MONDO:0031040 - cholestasis, progressive familial intrahepatic, 12

References:

Genes:

MONDO:0019149 - cholesteryl ester storage disease

References:

Genes:

MONDO:0010814 - chondrodysplasia-pseudohermaphroditism syndrome

References:

Genes:

MONDO:0010278 - Christianson syndrome

References:

Genes:

MONDO:0014528 - chronic atrial and intestinal dysrhythmia

References:

Genes:

MONDO:0010441 - CK syndrome

References:

Genes:

MONDO:0021055 - classic familial adenomatous polyposis

References:

Genes:

MONDO:0010879 - CODAS syndrome

References:

Genes:

MONDO:0010561 - Coffin-Lowry syndrome

References:

Genes:

MONDO:0015452 - Coffin-Siris syndrome

References:

Genes:

MONDO:0007617 - Coffin-Siris syndrome 1

References:

Genes:

MONDO:0032912 - Coffin-Siris syndrome 11

References:

Genes:

MONDO:0014838 - Coffin-Siris syndrome 5

References:

Genes:

MONDO:0032702 - Coffin-Siris syndrome 8

References:

Genes:

MONDO:0012637 - COG1-congenital disorder of glycosylation

References:

Genes:

MONDO:0013325 - COG5-congenital disorder of glycosylation

References:

Genes:

MONDO:0007204 - Cole-Carpenter syndrome 1

References:

Genes:

MONDO:0014573 - Cole-Carpenter syndrome 2

References:

Genes:

MONDO:0012953 - colorectal cancer, susceptibility to, 10

References:

Genes:

MONDO:0014038 - colorectal cancer, susceptibility to, 12

References:

Genes:

MONDO:0013760 - congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

References:

Genes:

MONDO:0014258 - congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

References:

Genes:

MONDO:0012518 - congenital myasthenic syndrome 12

References:

Genes:

MONDO:0013883 - congenital myasthenic syndrome 13

References:

Genes:

MONDO:0014543 - congenital myasthenic syndrome 14

References:

Genes:

MONDO:0014542 - congenital myasthenic syndrome 15

References:

Genes:

MONDO:0014590 - congenital myasthenic syndrome 18

References:

Genes:

MONDO:0014487 - congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

References:

Genes:

MONDO:0020746 - contractures, pterygia, and variable skeletal fusions syndrome 1B

References:

Genes:

MONDO:0016033 - Cornelia de Lange syndrome

References:

Genes:

MONDO:0007387 - Cornelia de Lange syndrome 1

References:

Genes:

MONDO:0010370 - Cornelia de Lange syndrome 2

References:

Genes:

MONDO:0012555 - Cornelia de Lange syndrome 3

References:

Genes:

MONDO:0013864 - Cornelia de Lange syndrome 4

References:

Genes:

MONDO:0957921 - Cornelia de Lange syndrome 6

References:

Genes:

MONDO:0010333 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

References:

Genes:

MONDO:0958175 - craniofacial microsomia 1

References:

Genes:

MONDO:0009050 - Cushing disease due to pituitary adenoma

References:

Genes:

MONDO:0009067 - cystinuria

References:

Genes:

MONDO:0010217 - de Sanctis-Cacchione syndrome

References:

Genes:

MONDO:0014150 - developmental and epileptic encephalopathy 94

References:

Genes:

MONDO:0013389 - developmental and epileptic encephalopathy, 12

References:

Genes:

MONDO:0014598 - developmental and epileptic encephalopathy, 31A

References:

Genes:

MONDO:0014895 - developmental and epileptic encephalopathy, 40

References:

Genes:

MONDO:0100216 - DICER1-related tumor predisposition

References:

Genes:

MONDO:0014335 - diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

References:

Genes:

MONDO:0014073 - dilated cardiomyopathy 1II

References:

Genes:

MONDO:0013261 - dilated cardiomyopathy 1R

References:

Genes:

MONDO:0013262 - dilated cardiomyopathy 1S

References:

Genes:

MONDO:0012556 - DK1-congenital disorder of glycosylation

References:

Genes:

MONDO:0011686 - DNA ligase IV deficiency

References:

Genes:

MONDO:0011444 - Duane retraction syndrome 2

References:

Genes:

MONDO:0009380 - Dubin-Johnson syndrome

References:

Genes:

MONDO:0013578 - DYRK1A-related intellectual disability syndrome

References:

Genes:

MONDO:0007483 - dyschromatosis symmetrica hereditaria

References:

Genes:

MONDO:0015780 - dyskeratosis congenita

References:

Genes:

MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1

References:

Genes:

MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

References:

Genes:

MONDO:0013522 - dyskeratosis congenita, autosomal dominant 3

References:

Genes:

MONDO:0014690 - dyskeratosis congenita, autosomal dominant 6

References:

Genes:

MONDO:0009136 - dyskeratosis congenita, autosomal recessive 1

References:

Genes:

MONDO:0013519 - dyskeratosis congenita, autosomal recessive 2

References:

Genes:

MONDO:0013520 - dyskeratosis congenita, autosomal recessive 3

References:

Genes:

MONDO:0014600 - dyskeratosis congenita, autosomal recessive 6

References:

Genes:

MONDO:0031057 - dyskeratosis congenita, digenic

References:

Genes:

MONDO:0010584 - dyskeratosis congenita, X-linked

References:

Genes:

MONDO:0020378 - early-onset posterior polar cataract

References:

Genes:

MONDO:0020066 - Ehlers-Danlos syndrome

References:

Genes:

MONDO:0016002 - Ehlers-Danlos syndrome, kyphoscoliotic type 1

References:

Genes:

MONDO:0013800 - Ehlers-Danlos syndrome, kyphoscoliotic type, 2

References:

Genes:

MONDO:0012873 - Ehlers-Danlos syndrome, spondylocheirodysplastic type

References:

Genes:

MONDO:0014139 - Ehlers-Danlos syndrome, spondylodysplastic type, 2

References:

Genes:

MONDO:0014801 - even-plus syndrome

References:

Genes:

MONDO:0012041 - familial adenomatous polyposis 2

References:

Genes:

MONDO:0014630 - familial adenomatous polyposis 3

References:

Genes:

MONDO:0044300 - familial adenomatous polyposis 4

References:

Genes:

MONDO:0013766 - familial cold autoinflammatory syndrome 3

References:

Genes:

MONDO:0013806 - familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

References:

Genes:

MONDO:0012146 - familial hemophagocytic lymphohistiocytosis 3

References:

Genes:

MONDO:0011336 - familial hemophagocytic lymphohistiocytosis 4

References:

Genes:

MONDO:0013135 - familial hemophagocytic lymphohistiocytosis 5

References:

Genes:

MONDO:0019006 - familial idiopathic steroid-resistant nephrotic syndrome

References:

Genes:

MONDO:0010080 - familial infantile bilateral striatal necrosis

References:

Genes:

MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

References:

Genes:

MONDO:0018346 - ferro-cerebro-cutaneous syndrome

References:

Genes:

MONDO:0100101 - fetal akinesia deformation sequence 1

References:

Genes:

MONDO:0100104 - fetal akinesia deformation sequence 4

References:

Genes:

MONDO:0010590 - FG syndrome 1

References:

Genes:

MONDO:0013997 - focal facial dermal dysplasia type IV

References:

Genes:

MONDO:0011303 - focal segmental glomerulosclerosis 1

References:

Genes:

MONDO:0012853 - Fontaine progeroid syndrome

References:

Genes:

MONDO:0009579 - Frank-Ter Haar syndrome

References:

Genes:

MONDO:0008675 - Freeman-Sheldon syndrome

References:

Genes:

MONDO:0009627 - Galloway-Mowat syndrome

References:

Genes:

MONDO:0030476 - Galloway-Mowat syndrome 10

References:

Genes:

MONDO:0033006 - Galloway-Mowat syndrome 2, X-linked

References:

Genes:

MONDO:0033007 - Galloway-Mowat syndrome 3

References:

Genes:

MONDO:0033008 - Galloway-Mowat syndrome 4

References:

Genes:

MONDO:0033009 - Galloway-Mowat syndrome 5

References:

Genes:

MONDO:0032691 - Galloway-Mowat syndrome 6

References:

Genes:

MONDO:0032692 - Galloway-Mowat syndrome 7

References:

Genes:

MONDO:0032693 - Galloway-Mowat syndrome 8

References:

Genes:

MONDO:0030471 - Galloway-Mowat syndrome 9

References:

Genes:

MONDO:0007646 - Gamstorp-Wohlfart syndrome

References:

Genes:

MONDO:0800030 - gastrointestinal defects and immunodeficiency syndrome 1

References:

Genes:

MONDO:0011640 - genitopatellar syndrome

References:

Genes:

MONDO:0024498 - glioma susceptibility 1

References:

Genes:

MONDO:0013092 - glioma susceptibility 2

References:

Genes:

MONDO:0014567 - glutamate pyruvate transaminase 2 deficiency

References:

Genes:

MONDO:0007681 - goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

References:

Genes:

MONDO:0008962 - Griscelli syndrome type 1

References:

Genes:

MONDO:0014911 - growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

References:

Genes:

MONDO:0007888 - hereditary leiomyomatosis and renal cell cancer

References:

Genes:

MONDO:0018630 - hereditary nonpolyposis colon cancer

References:

Genes:

MONDO:0009748 - hereditary sensory and autonomic neuropathy with spastic paraplegia

References:

Genes:

MONDO:0010043 - hereditary spastic paraplegia 17

References:

Genes:

MONDO:0012787 - hereditary spastic paraplegia 39

References:

Genes:

MONDO:0014018 - hereditary spastic paraplegia 54

References:

Genes:

MONDO:0014020 - hereditary spastic paraplegia 55

References:

Genes:

MONDO:0014305 - hereditary spastic paraplegia 63

References:

Genes:

MONDO:0014644 - hereditary spastic paraplegia 74

References:

Genes:

MONDO:0011006 - hereditary spastic paraplegia 9A

References:

Genes:

MONDO:0014885 - Hermansky-Pudlak syndrome 10

References:

Genes:

MONDO:0011997 - Hermansky-Pudlak syndrome 2

References:

Genes:

MONDO:0032787 - holoprosencephaly 12 with or without pancreatic agenesis

References:

Genes:

MONDO:0026763 - holoprosencephaly 13, X-linked

References:

Genes:

MONDO:0030886 - holoprosencephaly 14

References:

Genes:

MONDO:0014602 - Houge-Janssens syndrome 1

References:

Genes:

MONDO:0014605 - Houge-Janssens syndrome 2

References:

Genes:

MONDO:0032697 - Houge-Janssens syndrome 3

References:

Genes:

MONDO:0958005 - Hoxha-Aliu syndrome

References:

Genes:

MONDO:0009849 - hyperimmunoglobulinemia D with periodic fever

References:

Genes:

MONDO:0007767 - hyperparathyroidism 1

References:

Genes:

MONDO:0007768 - hyperparathyroidism 2 with jaw tumors

References:

Genes:

MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

References:

Genes:

MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

References:

Genes:

MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

References:

Genes:

MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

References:

Genes:

MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

References:

Genes:

MONDO:0013722 - hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

References:

Genes:

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

References:

Genes:

MONDO:0009440 - ichthyosiform erythroderma, corneal involvement, and hearing loss

References:

Genes:

MONDO:0100221 - IFAP syndrome 2

References:

Genes:

MONDO:0958013 - immunodeficiency, common variable, 15

References:

Genes:

MONDO:0000507 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia

References:

Genes:

MONDO:0008178 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

References:

Genes:

MONDO:0018097 - infantile spasms

References:

Genes:

MONDO:0015022 - intellectual developmental disorder with dysmorphic facies and ptosis

References:

Genes:

MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

References:

Genes:

MONDO:0013805 - intellectual disability, autosomal dominant 13

References:

Genes:

MONDO:0013819 - intellectual disability, autosomal dominant 14

References:

Genes:

MONDO:0013820 - intellectual disability, autosomal dominant 15

References:

Genes:

MONDO:0013821 - intellectual disability, autosomal dominant 16

References:

Genes:

MONDO:0014832 - intellectual disability, autosomal recessive 53

References:

Genes:

MONDO:0010250 - intellectual disability, X-linked 49

References:

Genes:

MONDO:0010407 - intellectual disability, X-linked syndromic, Turner type

References:

Genes:

MONDO:0010500 - intellectual disability, X-linked, syndromic 33

References:

Genes:

MONDO:0030908 - intellectual disability, X-linked, syndromic, 35

References:

Genes:

MONDO:0030909 - intellectual disability, X-linked, syndromic, Houge type

References:

Genes:

MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome

References:

Genes:

MONDO:0014119 - intellectual disability-strabismus syndrome

References:

Genes:

MONDO:0010465 - Kabuki syndrome 2

References:

Genes:

MONDO:0975795 - Kariminejad neurodevelopmental syndrome

References:

Genes:

MONDO:0851095 - KINSSHIP syndrome

References:

Genes:

MONDO:0009514 - Laurence-Moon syndrome

References:

Genes:

MONDO:0016532 - Lennox-Gastaut syndrome

References:

Genes:

MONDO:0010298 - Lesch-Nyhan syndrome

References:

Genes:

MONDO:0009670 - lethal congenital contracture syndrome 1

References:

Genes:

MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

References:

Genes:

MONDO:0013740 - lethal occipital encephalocele-skeletal dysplasia syndrome

References:

Genes:

MONDO:0013108 - leukemia, acute lymphocytic, susceptibility to, 1

References:

Genes:

MONDO:0018875 - Li-Fraumeni syndrome

References:

Genes:

MONDO:0030045 - Liberfarb syndrome

References:

Genes:

MONDO:0008323 - Liddle syndrome

References:

Genes:

MONDO:0024552 - linear skin defects with multiple congenital anomalies 1

References:

Genes:

MONDO:0014548 - long QT syndrome 14

References:

Genes:

MONDO:0014550 - long QT syndrome 15

References:

Genes:

MONDO:0032915 - long QT syndrome 16

References:

Genes:

MONDO:0013367 - long QT syndrome 2

References:

Genes:

MONDO:0957960 - Long-Olsen-Distelmaier syndrome

References:

Genes:

MONDO:0014791 - Luscan-Lumish syndrome

References:

Genes:

MONDO:0005835 - Lynch syndrome

References:

Genes:

MONDO:0007356 - Lynch syndrome 1

References:

Genes:

MONDO:0012249 - Lynch syndrome 2

References:

Genes:

MONDO:0013699 - Lynch syndrome 4

References:

Genes:

MONDO:0013710 - Lynch syndrome 5

References:

Genes:

MONDO:0015912 - macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

References:

Genes:

MONDO:0014757 - macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

References:

Genes:

MONDO:0012316 - Majeed syndrome

References:

Genes:

MONDO:0009567 - Marinesco-Sjogren syndrome

References:

Genes:

MONDO:0012251 - MEDNIK syndrome

References:

Genes:

MONDO:0025708 - megacystis-microcolon-intestinal hypoperistalsis syndrome 2

References:

Genes:

MONDO:0030296 - megacystis-microcolon-intestinal hypoperistalsis syndrome 4

References:

Genes:

MONDO:0030329 - megacystis-microcolon-intestinal hypoperistalsis syndrome 5

References:

Genes:

MONDO:0010258 - MEHMO syndrome

References:

Genes:

MONDO:0016817 - Meier-Gorlin syndrome

References:

Genes:

MONDO:0009143 - Meier-Gorlin syndrome 1

References:

Genes:

MONDO:0013428 - Meier-Gorlin syndrome 2

References:

Genes:

MONDO:0013430 - Meier-Gorlin syndrome 3

References:

Genes:

MONDO:0013431 - Meier-Gorlin syndrome 4

References:

Genes:

MONDO:0013432 - Meier-Gorlin syndrome 5

References:

Genes:

MONDO:0014894 - Meier-Gorlin syndrome 7

References:

Genes:

MONDO:0033046 - Meier-Gorlin syndrome 8

References:

Genes:

MONDO:0013510 - melanoma, cutaneous malignant, susceptibility to, 6

References:

Genes:

MONDO:0014056 - melanoma, cutaneous malignant, susceptibility to, 9

References:

Genes:

MONDO:0010651 - Menkes disease

References:

Genes:

MONDO:0009598 - metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

References:

Genes:

MONDO:0009601 - metaphyseal dysplasia without hypotrichosis

References:

Genes:

MONDO:0012481 - mevalonic aciduria

References:

Genes:

MONDO:0014031 - microcephalic primordial dwarfism, Alazami type

References:

Genes:

MONDO:0009624 - microcephaly and chorioretinopathy 1

References:

Genes:

MONDO:0007918 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

References:

Genes:

MONDO:0013659 - microcephaly-capillary malformation syndrome

References:

Genes:

MONDO:0010671 - microphthalmia, syndromic 1

References:

Genes:

MONDO:0010516 - midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

References:

Genes:

MONDO:0010159 - mismatch repair cancer syndrome 1

References:

Genes:

MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

References:

Genes:

MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

References:

Genes:

MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

References:

Genes:

MONDO:0012791 - mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

References:

Genes:

MONDO:0975848 - Morimoto-Ryu-Malicdan neuromuscular syndrome

References:

Genes:

MONDO:0009759 - mosaic variegated aneuploidy syndrome 1

References:

Genes:

MONDO:0013582 - mosaic variegated aneuploidy syndrome 2

References:

Genes:

MONDO:0859346 - mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition

References:

Genes:

MONDO:0011257 - MPI-congenital disorder of glycosylation

References:

Genes:

MONDO:0018938 - mucopolysaccharidosis type 4

References:

Genes:

MONDO:0009661 - mucopolysaccharidosis type 6

References:

Genes:

MONDO:0008018 - Muir-Torre syndrome

References:

Genes:

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

References:

Genes:

MONDO:0032596 - myasthenic syndrome, congenital, 23, presynaptic

References:

Genes:

MONDO:0018881 - myelodysplastic syndrome

References:

Genes:

MONDO:0007925 - myelodysplastic syndrome associated with isolated del(5q)

References:

Genes:

MONDO:0975797 - myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities

References:

Genes:

MONDO:0012130 - myofibrillar myopathy 2

References:

Genes:

MONDO:0011266 - myotonic dystrophy type 2

References:

Genes:

MONDO:0010686 - N syndrome

References:

Genes:

MONDO:0007943 - Nager acrofacial dysostosis

References:

Genes:

MONDO:0014752 - nephrotic syndrome, type 11

References:

Genes:

MONDO:0014817 - nephrotic syndrome, type 12

References:

Genes:

MONDO:0014818 - nephrotic syndrome, type 13

References:

Genes:

MONDO:0032580 - nephrotic syndrome, type 17

References:

Genes:

MONDO:0032581 - nephrotic syndrome, type 18

References:

Genes:

MONDO:0032582 - nephrotic syndrome, type 19

References:

Genes:

MONDO:0026726 - nephrotic syndrome, type 20

References:

Genes:

MONDO:0014099 - nephrotic syndrome, type 8

References:

Genes:

MONDO:0014257 - nephrotic syndrome, type 9

References:

Genes:

MONDO:0009736 - Neu-Laxova syndrome 1

References:

Genes:

MONDO:0014466 - Neu-Laxova syndrome 2

References:

Genes:

MONDO:0975877 - neurodevelopmental disorder with variable familial hypercholanemia

References:

Genes:

MONDO:0018997 - Noonan syndrome

References:

Genes:

MONDO:0033669 - Noonan syndrome 13

References:

Genes:

MONDO:0012371 - Noonan syndrome 3

References:

Genes:

MONDO:0013186 - Noonan syndrome 6

References:

Genes:

MONDO:0009485 - oculocerebrofacial syndrome, Kaufman type

References:

Genes:

MONDO:0010645 - oculocerebrorenal syndrome

References:

Genes:

MONDO:0010457 - Ogden syndrome

References:

Genes:

MONDO:0009393 - ornithine translocase deficiency

References:

Genes:

MONDO:0975953 - Pan-Chung-Bellen syndrome

References:

Genes:

MONDO:0010802 - pancreatic hypoplasia-diabetes-congenital heart disease syndrome

References:

Genes:

MONDO:0030676 - parkinsonism-dystonia 3, childhood-onset

References:

Genes:

MONDO:0009841 - PEHO syndrome

References:

Genes:

MONDO:0010134 - Pendred syndrome

References:

Genes:

MONDO:0013711 - peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

References:

Genes:

MONDO:0011966 - periventricular heterotopia with microcephaly, autosomal recessive

References:

Genes:

MONDO:0020341 - periventricular nodular heterotopia

References:

Genes:

MONDO:0014966 - periventricular nodular heterotopia 7

References:

Genes:

MONDO:0032588 - periventricular nodular heterotopia 8

References:

Genes:

MONDO:0009965 - Perlman syndrome

References:

Genes:

MONDO:0013948 - peroxisome biogenesis disorder 10A (Zellweger)

References:

Genes:

MONDO:0054549 - peroxisome biogenesis disorder 10B

References:

Genes:

MONDO:0013949 - peroxisome biogenesis disorder 11A (Zellweger)

References:

Genes:

MONDO:0013950 - peroxisome biogenesis disorder 11B

References:

Genes:

MONDO:0013951 - peroxisome biogenesis disorder 12A (Zellweger)

References:

Genes:

MONDO:0013952 - peroxisome biogenesis disorder 13A (Zellweger)

References:

Genes:

MONDO:0013967 - peroxisome biogenesis disorder 14B

References:

Genes:

MONDO:0008953 - peroxisome biogenesis disorder 1A (Zellweger)

References:

Genes:

MONDO:0011101 - peroxisome biogenesis disorder 1B

References:

Genes:

MONDO:0008954 - peroxisome biogenesis disorder 2A (Zellweger)

References:

Genes:

MONDO:0008736 - peroxisome biogenesis disorder 2B

References:

Genes:

MONDO:0013927 - peroxisome biogenesis disorder 3A (Zellweger)

References:

Genes:

MONDO:0013930 - peroxisome biogenesis disorder 4A (Zellweger)

References:

Genes:

MONDO:0013931 - peroxisome biogenesis disorder 4B

References:

Genes:

MONDO:0013936 - peroxisome biogenesis disorder 6A (Zellweger)

References:

Genes:

MONDO:0013937 - peroxisome biogenesis disorder 6B

References:

Genes:

MONDO:0013938 - peroxisome biogenesis disorder 7A (Zellweger)

References:

Genes:

MONDO:0013939 - peroxisome biogenesis disorder 7B

References:

Genes:

MONDO:0013942 - peroxisome biogenesis disorder 8A (Zellweger)

References:

Genes:

MONDO:0013943 - peroxisome biogenesis disorder 8B

References:

Genes:

MONDO:0013945 - peroxisome biogenesis disorder 9B

References:

Genes:

MONDO:0100259 - peroxisome biogenesis disorder due to PEX1 defect

References:

Genes:

MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

References:

Genes:

MONDO:0009959 - peroxisome biogenesis disorder type 3B

References:

Genes:

MONDO:0008201 - Perry syndrome

References:

Genes:

MONDO:0008192 - pheochromocytoma/paraganglioma syndrome 1

References:

Genes:

MONDO:0011121 - pheochromocytoma/paraganglioma syndrome 2

References:

Genes:

MONDO:0011544 - pheochromocytoma/paraganglioma syndrome 3

References:

Genes:

MONDO:0007273 - pheochromocytoma/paraganglioma syndrome 4

References:

Genes:

MONDO:0013602 - pheochromocytoma/paraganglioma syndrome 5

References:

Genes:

MONDO:0032771 - pheochromocytoma/paraganglioma syndrome 7

References:

Genes:

MONDO:0002470 - photosensitive trichothiodystrophy

References:

Genes:

MONDO:0011213 - Pierpont syndrome

References:

Genes:

MONDO:0011014 - pleuropulmonary blastoma

References:

Genes:

MONDO:0014497 - polyendocrine-polyneuropathy syndrome

References:

Genes:

MONDO:0009903 - postaxial acrofacial dysostosis

References:

Genes:

MONDO:0014909 - primary ciliary dyskinesia 34

References:

Genes:

MONDO:0011156 - progressive familial intrahepatic cholestasis type 2

References:

Genes:

MONDO:0011214 - progressive familial intrahepatic cholestasis type 3

References:

Genes:

MONDO:0014714 - progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

References:

Genes:

MONDO:0054698 - proteasome-associated autoinflammatory syndrome 1

References:

Genes:

MONDO:0054700 - proteasome-associated autoinflammatory syndrome 2

References:

Genes:

MONDO:0054699 - proteasome-associated autoinflammatory syndrome 3

References:

Genes:

MONDO:0968983 - proteasome-associated autoinflammatory syndrome 6

References:

Genes:

MONDO:0008318 - Proteus syndrome

References:

Genes:

MONDO:0017623 - PTEN hamartoma tumor syndrome

References:

Genes:

MONDO:0011462 - pyogenic arthritis-pyoderma gangrenosum-acne syndrome

References:

Genes:

MONDO:0044634 - retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

References:

Genes:

MONDO:0014495 - retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

References:

Genes:

MONDO:0009990 - Revesz syndrome

References:

Genes:

MONDO:0012252 - rhabdoid tumor predisposition syndrome 1

References:

Genes:

MONDO:0013224 - rhabdoid tumor predisposition syndrome 2

References:

Genes:

MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

References:

Genes:

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

References:

Genes:

MONDO:0010002 - Rothmund-Thomson syndrome

References:

Genes:

MONDO:0016368 - Rothmund-Thomson syndrome type 1

References:

Genes:

MONDO:0016369 - Rothmund-Thomson syndrome type 2

References:

Genes:

MONDO:0970950 - Rothmund-Thomson syndrome type 4

References:

Genes:

MONDO:0019342 - Seckel syndrome

References:

Genes:

MONDO:0008869 - Seckel syndrome 1

References:

Genes:

MONDO:0014991 - Seckel syndrome 10

References:

Genes:

MONDO:0011715 - Seckel syndrome 2

References:

Genes:

MONDO:0014350 - Seckel syndrome 8

References:

Genes:

MONDO:0014686 - short stature, microcephaly, and endocrine dysfunction

References:

Genes:

MONDO:0054565 - short-rib thoracic dysplasia 17 with or without polydactyly

References:

Genes:

MONDO:0009833 - Shwachman-Diamond syndrome

References:

Genes:

MONDO:0044204 - Shwachman-Diamond syndrome 1

References:

Genes:

MONDO:0044205 - Shwachman-Diamond syndrome 2

References:

Genes:

MONDO:0859173 - sick sinus syndrome 4

References:

Genes:

MONDO:0020747 - sitosterolemia 1

References:

Genes:

MONDO:0020748 - sitosterolemia 2

References:

Genes:

MONDO:0010030 - Sjogren syndrome

References:

Genes:

MONDO:0054636 - Skraban-Deardorff syndrome

References:

Genes:

MONDO:0024517 - SMARCB1-related schwannomatosis

References:

Genes:

MONDO:0010035 - Smith-Lemli-Opitz syndrome

References:

Genes:

MONDO:0012651 - spastic ataxia 2

References:

Genes:

MONDO:0030482 - spastic paraplegia 84, autosomal recessive

References:

Genes:

MONDO:0030512 - spastic paraplegia 85, autosomal recessive

References:

Genes:

MONDO:0008471 - spondyloepiphyseal dysplasia congenita

References:

Genes:

MONDO:0054591 - Stankiewicz-Isidor syndrome

References:

Genes:

MONDO:0010774 - striatonigral degeneration, infantile, mitochondrial

References:

Genes:

MONDO:0010408 - syndactyly-telecanthus-anogenital and renal malformations syndrome

References:

Genes:

MONDO:0010398 - syndromic X-linked intellectual disability 14

References:

Genes:

MONDO:0010574 - syndromic X-linked intellectual disability 5

References:

Genes:

MONDO:0010355 - syndromic X-linked intellectual disability Claes-Jensen type

References:

Genes:

MONDO:0010461 - syndromic X-linked intellectual disability Nascimento type

References:

Genes:

MONDO:0010286 - syndromic X-linked intellectual disability Siderius type

References:

Genes:

MONDO:0957990 - Tan-Almurshedi syndrome

References:

Genes:

MONDO:0010121 - thrombocytopenia-absent radius syndrome

References:

Genes:

MONDO:0010854 - Toriello-Lacassie-Droste syndrome

References:

Genes:

MONDO:0013385 - Treacher Collins syndrome 2

References:

Genes:

MONDO:0009558 - Treacher Collins syndrome 3

References:

Genes:

MONDO:0030067 - Treacher Collins syndrome 4

References:

Genes:

MONDO:0002457 - Treacher-Collins syndrome

References:

Genes:

MONDO:0009105 - trichohepatoenteric syndrome

References:

Genes:

MONDO:0024541 - trichohepatoenteric syndrome 1

References:

Genes:

MONDO:0013818 - trichohepatoenteric syndrome 2

References:

Genes:

MONDO:0010152 - trichomegaly-retina pigmentary degeneration-dwarfism syndrome

References:

Genes:

MONDO:0018053 - trichothiodystrophy

References:

Genes:

MONDO:0011125 - trichothiodystrophy 1, photosensitive

References:

Genes:

MONDO:0014615 - trichothiodystrophy 2, photosensitive

References:

Genes:

MONDO:0014619 - trichothiodystrophy 3, photosensitive

References:

Genes:

MONDO:0010495 - trichothiodystrophy 5, nonphotosensitive

References:

Genes:

MONDO:0014841 - trichothiodystrophy 6, nonphotosensitive

References:

Genes:

MONDO:0032806 - trichothiodystrophy 7, nonphotosensitive

References:

Genes:

MONDO:0030517 - trichothiodystrophy 8, nonphotosensitive

References:

Genes:

MONDO:0030518 - trichothiodystrophy 9, nonphotosensitive

References:

Genes:

MONDO:0001734 - tuberous sclerosis

References:

Genes:

MONDO:0008612 - tuberous sclerosis 1

References:

Genes:

MONDO:0013199 - tuberous sclerosis 2

References:

Genes:

MONDO:0014368 - tumor predisposition syndrome 3

References:

Genes:

MONDO:0013788 - Usher syndrome type 3B

References:

Genes:

MONDO:0026777 - VEXAS syndrome

References:

Genes:

MONDO:0014296 - Warburg micro syndrome 4

References:

Genes:

MONDO:0010196 - Werner syndrome

References:

Genes:

MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

References:

Genes:

MONDO:0008678 - Williams syndrome

References:

Genes:

MONDO:0010665 - Wilson-Turner syndrome

References:

Genes:

MONDO:0010518 - Wiskott-Aldrich syndrome

References:

Genes:

MONDO:0009192 - Wolcott-Rallison syndrome

References:

Genes:

MONDO:0019148 - Wolman disease

References:

Genes:

MONDO:0010485 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

References:

Genes:

MONDO:0010463 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type

References:

Genes:

MONDO:0010655 - X-linked intellectual disability with marfanoid habitus

References:

Genes:

MONDO:0010306 - X-linked intellectual disability, Cabezas type

References:

Genes:

MONDO:0015601 - X-linked intellectual disability, van Esch type

References:

Genes:

MONDO:0010496 - X-linked intellectual disability-short stature-overweight syndrome

References:

Genes:

MONDO:0010523 - X-linked reticulate pigmentary disorder

References:

Genes:

MONDO:0012531 - xeroderma pigmentosum group B

References:

Genes:

MONDO:0010212 - xeroderma pigmentosum group D

References:

Genes:

MONDO:0010215 - xeroderma pigmentosum group F

References:

Genes:

MONDO:0010216 - xeroderma pigmentosum group G

References:

Genes:

MONDO:0957786 - xerosis and growth failure with immune and pulmonary dysfunction syndrome

References:

Genes:

MONDO:0012590 - XFE progeroid syndrome

References:

Genes:

MONDO:0008995 - Yunis-Varon syndrome

References:

Genes:

MONDO:0019609 - Zellweger spectrum disorders

References:

Genes: