data/exception_list_anonymization.tsv

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-ii deficiency
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1d
2c
3-M
3-methylcrotonyl-coa
3-methylglutaconic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like
3MC
3c
3p-
A
ABCD
ACCES
ADN
ADOCBL
ADULT
AIT
AMED
Aarskog-Scott
Abdominal
Abdominal obesity-metabolic
Ablepharon-macrostomia
Abruzzo-Erickson
Achalasia-addisonianism-alacrimia
Achille
Acrocallosal
Acropectoral
Adams-Oliver
Addison
Advance
Advance sleep phase
Advanced
Advanced sleep phase
Advanced sleep-phase
Agenesis
Agenesis of corpus callosum, cardiac, ocular, and genital
Aicardi
Aicardi-Goutieres
Al
Al Kaissi
Al-Gazali
Al-Gazali-Bakalinova
Al-Raqad
Alacrima
Alacrima, achalasia, and impaired intellectual development
Alagille
Alazami
Alazami-Yuan
Albinism-deafness
Alkuraya-Kucinskas
Allan-Herndon-Dudley
Alopecia
Alopecia, neurologic defects, and endocrinopathy
Alopecia-intellectual
Alopecia-intellectual disability
Alpha-thalassemia
Alpha-thalassemia myelodysplasia
Alpha-thalassemia/impaired
Alpha-thalassemia/impaired intellectual development
Alpha-thalassemia/mental
Alpha-thalassemia/mental retardation
Alport
Alstrom
Alzahrani-Kuwahara
Alzheimer
Amelia
Amelia, posterior, with pelvic and pulmonary hypoplasia
Amelogenesis
Amelogenesis imperfecta, type IG (enamel-renal
Andersen
Angelman
Antiphospholipid
Antley-Bixler
Apert
Arboleda-Tham
Arnold-Chiari
Aromatase
Aromatase excess
Arterial
Arterial tortuosity
Arts
Asperger
Ataxia
Ataxia, intention tremor, and hypotonia
Ataxia-pancytopenia
Atelis
Athabaskan
Athabaskan brainstem dysgenesis
Atrioventricular
Atrioventricular septal defect, partial, with heterotaxy
Au-Kline
Auriculocondylar
Autoimmune
Autoimmune lymphoproliferative
Autoimmune polyendocrinopathy
Autoinflammation
Autoinflammation, antibody deficiency, and immune dysregulation
Autoinflammation, panniculitis, and dermatosis
Autoinflammatory
Autoinflammatory-pancytopenia
Axenfeld-Rieger
Ayme-Gripp
B1
B2
B6
B9
BDV
Bachmann-Bupp
Bainbridge-Ropers
Baker-Gordon
Baller-Gerold
Bamforth-Lazarus
Baraitser-Winter
Baralle-Macken
Barber-Say
Bardet-Biedl
Bare
Bare lymphocyte
Bart-Pumphrey
Barth
Bartter
Basal
Basal cell nevus
Basan
Basel-Vanagait-Smirin-Yosef
Basilicata-Akhtar
Bazex
Beare-Stevenson
Beare-Stevenson cutis gyrata
Beaulieu-Boycott-Innes
Beck-Fahrner
Beckwith-Wiedemann
Behr
Bell
Bent
Bent bone dysplasia
Berger
Bernard-Soulier
Best
Biliary
Biliary, renal, neurologic, and skeletal
Birk-Barel
Birk-Landau-Perez
Birt-Hogg-Dube
Bjornstad
Blau
Blepharocheilodontic
Blepharophimosis-impaired
Blepharophimosis-impaired intellectual development
Bloom
Bohring-Opitz
Bone
Bone marrow failure
Bone marrow failure and diabetes mellitus
Bor-Duane
Bor-Duane hydrocephalus contiguous gene
Borjeson-Forssman-Lehmann
Bosch-Boonstra-Schaaf
Bosch-Boonstra-Schaaf optic atrophy
Bosley-Salih-Alorainy
Bosma
Bosma arhinia microphthalmia
Boucher-Neuhauser
Boudin-Mortier
Bowen-Conradi
Brachydactyly-syndactyly
Braddock-Carey
Brain
Brain tumor-polyposis
Branchial
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism
Branchiooculofacial
Branchiootic
Branchiootorenal
Brittle
Brittle cornea
Brooke-Spiegler
Brown-Vialetto-Van
Brown-Vialetto-Van Laere
Bruck
Brugada
Brunet-Wagner
Brunet-Wagner neurodevelopmental
Brunner
Bryant-Li-Bhoj
Bryant-Li-Bhoj neurodevelopmental
Budd-Chiari
Buratti-Harel
Burn-McKeown
Buschke-Ollendorff
C
C2-C3
CAE
CAPOS
CARASIL
CATIFA
CATSHL
CBH
CD4+
CD8+
CDAGS
CEBALID
CHAND
CHARGE
CHILD
CHIME
CHOPS
CIMDAG
CINCA
CK
CLAPO
CLOVE
COACH
CODAS
COMMAD
CPK
CRASH
Camptodactyly-arthropathy-coxa
Camptodactyly-arthropathy-coxa vara-pericarditis
Cardiac
Cardiac arrhythmia
Cardiac-urogenital
Cardiofaciocutaneous
Cardiofacioneurodevelopmental
Cardiospondylocarpofacial
Carey-Fineman-Ziter
Carpal
Carpal tunnel
Carpenter
Caspase
Caspase 8 lymphadenopathy
Cat
Cat eye
Catel-Manzke
Caudal
Caudal regression
Cayler
Cayler cardiofacial
Cenani-Lenz
Cenani-Lenz syndactyly
Central
Central hypoventilation
Cerebellar
Cerebellar ataxia, impaired intellectual development and dysequilibrium
Cerebellar ataxia, impaired intellectual development, and dysequilibrium
Cerebellar ataxia, impaired intellectual development, and dysquilibrium
Cerebellar ataxia, neuropathy, and vestibular areflexia
Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium
Cerebellar, ocular, craniofacial, and genital
Cerebellofaciodental
Cerebral
Cerebral creatine deficiency
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
Cerebral-cerebellar-coloboma
Cerebrocostomandibular
Cerebrooculofacioskeletal
Chanarin-Dorfman
Char
Chediak-Higashi
Chilton-Okur-Chung
Chilton-Okur-Chung neurodevelopmental
Chitayat
Cholestasis-lymphedema
Chopra-Amiel-Gordon
Chromosome
Chromosome 10q22.3-q23.2 deletion
Chromosome 10q26 deletion
Chromosome 11p13 deletion
Chromosome 11p15-p14 deletion
Chromosome 13q14 deletion
Chromosome 13q33-q34 deletion
Chromosome 14q11-q22 deletion
Chromosome 15q11.2 deletion
Chromosome 15q13.3 microdeletion
Chromosome 15q14 deletion
Chromosome 15q25 deletion
Chromosome 15q26-qter deletion
Chromosome 16p11.2 deletion
Chromosome 16p11.2 duplication
Chromosome 16p12.1 deletion
Chromosome 16p12.2-p11.2 deletion
Chromosome 16p13.3 deletion
Chromosome 16p13.3 duplication
Chromosome 16q12 duplication
Chromosome 16q22 deletion
Chromosome 17p13.1 deletion
Chromosome 17p13.3 duplication
Chromosome 17q11.2 deletion
Chromosome 17q11.2 duplication
Chromosome 17q12 deletion
Chromosome 17q12 duplication
Chromosome 17q21.31 duplication
Chromosome 17q23.1-q23.2 deletion
Chromosome 17q23.1-q23.2 duplication
Chromosome 18p deletion
Chromosome 18q deletion
Chromosome 19p13.13 deletion
Chromosome 19p13.13 duplication
Chromosome 19q13.11 deletion
Chromosome 1p35 deletion
Chromosome 1p36 deletion
Chromosome 1p36.33 duplication
Chromosome 1q21.1 deletion
Chromosome 1q21.1 duplication
Chromosome 1q41-q42 deletion
Chromosome 22q11.2 deletion
Chromosome 22q11.2 microduplication
Chromosome 22q13 duplication
Chromosome 2p12-p11.2 deletion
Chromosome 2p16.1-p15 deletion
Chromosome 2q31.1 duplication
Chromosome 2q31.2 deletion
Chromosome 2q37 deletion
Chromosome 3q13.31 deletion
Chromosome 3q29 microdeletion
Chromosome 3q29 microduplication
Chromosome 4q21 deletion
Chromosome 4q32.1-q32.2 triplication
Chromosome 5p13 duplication
Chromosome 5q12 deletion
Chromosome 5q14.3 deletion
Chromosome 6pter-p24 deletion
Chromosome 6q11-q14 deletion
Chromosome 6q25-q25 deletion
Chromosome 7q11.23 deletion
Chromosome 7q11.23 duplication
Chromosome 8p11 myeloproliferative
Chromosome 8q21.11 deletion
Chromosome 9p deletion
Chromosome Xp11.23-p11.22 duplication
Chromosome Xp11.3 deletion
Chromosome Xp21 deletion
Chromosome Xq13 duplication
Chromosome Xq26.3 duplication
Chromosome Xq27.3-q28 duplication
Chromosome Xq28 duplication
Chudley-McCullough
Chung-Jansen
Cleft
Cleft lip/palate-ectodermal dysplasia
Cockayne
Cocoon
Coffin-Lowry
Coffin-Siris
Cohen
Cohen-Gibson
Cold-induced
Cold-induced sweating
Cole-Carpenter
Combined
Combined osteogenesis imperfecta and Ehlers-Danlos
Cone-rod
Cone-rod synaptic disorder
Congenital
Congenital anomalies of kidney and urinary tract
Congenital heart defects and skeletal malformations
Congenital short bowel
Conotruncal
Conotruncal anomaly face
Contractures
Contractures, pterygia, and spondylocarpostarsal fusion
Contractures, pterygia, and spondylocarpotarsal fusion
Cornelia
Cornelia de Lange
Costello
Cousin
Cowchock
Cowden
Craniofacial
Craniofacial anomalies and anterior segment dysgenesis
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development
Craniofacial-deafness-hand
Craniofacioskeletal
Crigler-Najjar
Crohn
Crouzon
Culler-Jones
Currarino
Curry-Jones
Cushing
Cutaneous
Cutaneous telangiectasia and cancer
D3
DEEAH
DEGCAGS
DOORS
Dalton
Dandy-Walker
De
De Sanctis-Cacchione
Delayed
Delayed sleep phase
Delpire-McNeill
Dentici-Novelli
Dentici-Novelli neurodevelopmental
Denys-Drash
Desanto-Shinawi
DiGeorge
Dias-Logan
Diencephalic-mesencephalic
Diencephalic-mesencephalic junction dysplasia
Diets-Jongmans
Diffuse
Diffuse gastric and lobular breast cancer
Donnai-Barrow
Donohue
Down
Dravet
Duane
Duane retraction
Duane-radial
Duane-radial ray
Dubin-Johnson
Dursun
Dworschak-Punetha
Dworschak-Punetha neurodevelopmental
E
EDICT
EEC
EEG
EMG
ENDOVE
ERG
Ebstein
Ectodermal
Ectodermal dysplasia-syndactyly
Ectodermal dysplasia/short stature
Ectodermal dysplasia/skin fragility
Ectrodactyly
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate
Ehlers-Danlos
Eiken
Ellis-van
Ellis-van Creveld
Elsahy-Waters
Emanuel
Emberger
Enhanced
Enhanced S-cone
Epidermolysis
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic
Episodic
Episodic ataxia/myokymia
Episodic pain
Escobar
Even-plus
Exfoliation
FAV
FG
FILS
FINCA
Facial
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth
Fallot
Familial
Familial apolipoprotein gene cluster deletion
Familial cold autoinflammatory
Familial cold inflammatory
Fanconi
Fanconi renotubular
Fanconi-Bickel
Faundes-Banka
Feingold
Ferguson-Bonni
Ferguson-Bonni neurodevelopmental
Filippi
Floating-Harbor
Focal
Focal segmental glomerulosclerosis and neurodevelopmental
Fontaine
Fontaine progeroid
Forsythe-Wakeling
Fragile
Fragile X
Fragile X tremor/ataxia
Frank-ter
Frank-ter Haar
Fraser
Frasier
Frias
Fuhrmann
G
GAND
GAPO
GH
GLOW
GLUT1
GLUT1 deficiency
GRACILE
Gabriele-de
Gabriele-de Vries
Galloway-Mowat
Gardner
Gastrointestinal
Gastrointestinal defects and immunodeficiency
Gastrointestinal stromal tumor/GIST-plus
Genitopatellar
Genitourinary
Genitourinary and/or/brain malformation
Ghosal
Ghosal hematodiaphyseal
Gilbert
Gilles
Gilles de la Tourette
Gillespie
Gillessen-Kaesbach-Nishimura
Gitelman
Glass
Goeminne
Goeminne TKCR
Goldberg-Shprintzen
Goldberg-Shprintzen megacolon
Grange
Gray
Gray platelet
Greig
Greig cephalopolysyndactyly
Griscelli
Groupe
Gustavson
Guttmacher
HARP
HELIX
HELLP
Haim-Munk
Hajdu-Cheney
Halperin-Birk
Hamamy
Hand-foot-uterus
Hao-Fountain
Hardikar
Harel-Yoon
Hartsfield
Hay-Wells
Heart
Heart and brain malformation
Heart-hand
Heimler
Helsmoortel-van
Helsmoortel-van der Aa
Hemolytic
Hemolytic uremic
Hengel-Maroofian-Schols
Hennekam
Hennekam lymphangiectasia-lymphedema
Hermansky-Pudlak
Heyn-Sproul-Jackson
Hiatt-Neu-Cooper
Hiatt-Neu-Cooper neurodevelopmental
Hirschsprung
Histiocytosis-lymphadenopathy
Histiocytosis-lymphadenopathy plus
Hodgkin
Holt-Oram
Huriez
Hyaline
Hyaline fibromatosis
Hydrolethalus
Hyper-IgD
Hyper-IgE
Hyper-IgE recurrent infection
Hypereosinophilic
Hyperferritinemia-cataract
Hyperimmunoglobulin
Hyperimmunoglobulin G1
Hyperinsulinism-hyperammonemia
Hyperornithinemia-hyperammonemia-homocitrullinemia
Hyperparathyroidism-jaw
Hyperparathyroidism-jaw tumor
Hyperphosphatasia
Hyperphosphatasia with impaired intellectual development
Hypersensitivity
Hypertension
Hypertension and brachydactyly
Hypertrichotic
Hypertrichotic osteochondrodysplasia (Cantu
Hypocalcemia
Hypocalcemia, autosomal dominant, with Bartter
Hypogonadotropic
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann
Hypoparathyroidism-retardation-dysmorphism
Hypoplastic
Hypoplastic left heart
Hypotonia
Hypotonia, ataxia, and delayed development
Hypotonia, ataxia, developmental delay, and tooth enamel defect
Hypotonia-cystinuria
Hypotrichosis-lymphedema-telangiectasia
Hypotrichosis-lymphedema-telangiectasia-renal
Hypotrichosis-lymphedema-telangiectasia-renal defect
Hz
I
IFAP
II
III
IMAGE
IMAGE-I
IRM
IV
IVIC
IX
Ichthyosis
Ichthyosis prematurity
Ichthyosis, follicular, with atrichia and photophobia
IgE
IgG
IgM
Imagawa-Matsumoto
Imerslund-Grasbeck
Immune
Immune dysregulation and systemic hyperinflammation
Immunodeficiency-centromeric
Immunodeficiency-centromeric instability-facial anomalies
Infantile
Infantile liver failure
Intellectual
Intellectual disability and myopathy
Intellectual disability-hypotonic facies
Intestinal
Intestinal dysmotility
Ischiocoxopodopatellar
Jaberi-Elahi
Jackson-Weiss
Jacobsen
Jalili
Jansen
Jansen de Vries
Jawad
Jervell
Jervell and Lange-Nielsen
Johanson-Blizzard
Joubert
Juberg-Hayward
Juvenile
Juvenile polyposis/hereditary hemorrhagic telangiectasia
KBG
KINSSHIP
Kabuki
Kagami-Ogata
Kahrizi
Kaufman
Kaufman oculocerebrofacial
Kaya-Barakat-Masson
Keipert
Kenny-Caffey
Keppen-Lubinsky
Keratitis-ichthyosis-deafness
Keratoderma-ichthyosis-deafness
Keutel
Khan-Khan-Katsanis
Kilquist
Kindler
King-Denborough
Kleefstra
Klippel-Feil
Klippel-Trenaunay-Weber
Knobloch
Kohlschutter-Tonz
Kondoh
Koolen-De
Koolen-De Vries
Kosaki
Kosaki overgrowth
Kowarski
Kufor-Rakeb
Kury-Isidor
LADD
LCR
LEOPARD
LIG4
Lamb-Shaffer
Langerhans
Larsen
Larsen-like
Lateral
Lateral meningocele
Laurence-Moon
Laurin-Sandrow
Leber
Legius
Leri
Leri pleonosteosis chromosome duplication
Lesch-Nyhan
Lessel-Kreienkamp
Lessel-Kubisch
Lethal
Lethal congenital contractural
Lethal congenital contracture
Leukemia
Leukemia, megakaryoblastic, with or without Down
Leukemia, transient, of Down
Leukoencephalopathy
Leukoencephalopathy, developmental delay, and episodic neurologic regression
Leukoencephalopathy, motor delay, spasticity, and dysarthria
Levy-Shanske
Li-Campeau
Li-Fraumeni
Li-Ghorgani-Weisz-Hubshman
Liang-Wang
Liberfarb
Lichtenstein-Knorr
Liddle
Liebenberg
Limb-mammary
Loeys-Dietz
Long
Long QT
Lopes-Maciel-Rodan
Lowe
Lowry-Wood
Lujan-Fryns
Lung
Lung disease, immunodeficiency, and chromosome breakage
Luo-Schoch-Yamamoto
Luscan-Lumish
Lymphedema-distichiasis
Lymphoproliferative
Lynch
MASA
MASS
MEDNIK
MEHMO
MEND
MIRAGE
Macrocephaly/autism
Macrocephaly/megalencephaly
Majeed
Malan
Malouf
Mammary-digital-nail
Mandibular
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy
Mandibuloacral
Mandibuloacral dysplasia progeroid
Manitoba
Manitoba oculotrichoanal
Marbach-Rustad
Marbach-Rustad progeroid
Marbach-Schaaf
Marbach-Schaaf neurodevelopmental
Marden-Walker
Marfan
Marfan lipodystrophy
Marinesco-Sjogren
Marshall
Marshall-Smith
Marsili
Martin-Probst
Martsolf
Mast
McCune-Albright
McKusick-Kaufman
McLeod
Meacham
Meckel
Medulloblastoma
Medulloblastoma predisposition
Meester-Loeys
Mega-corpus-callosum
Megacystis-microcolon-intestinal
Megacystis-microcolon-intestinal hypoperistalsis
Megalencephaly-capillary
Megalencephaly-capillary malformation-polymicrogyria
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
Meier-Gorlin
Melanocytic
Melanocytic nevus
Melanoma
Melanoma and neural system tumor
Melanoma-pancreatic
Melanoma-pancreatic cancer
Melkersson-Rosenthal
Melnick-Needles
Menke-Hennekam
Mesomelia-synostoses
Metabolic
Microcephaly
Microcephaly, developmental delay, and brittle hair
Microcephaly, epilepsy, and diabetes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia
Microcephaly-capillary
Microcephaly-capillary malformation
Microcephaly-micromelia
Microphthalmia/coloboma
Microphthalmia/coloboma and skeletal dysplasia
Miller
Miller-Dieker
Miller-Dieker lissencephaly
Mismatch
Mismatch repair cancer
Mitchell
Mitchell-Riley
Mitochondrial
Mitochondrial DNA depletion
Mitochondrial recessive ataxia
Moebius
Mohr-Tranebjaerg
Monosomy
Monosomy 7 myelodysplasia and leukemia
Morgagni-Stewart-Morel
Mosaic
Mosaic variegated aneuploidy
Mowat-Wilson
Muckle-Wells
Mucopolysaccharidosis-plus
Muenke
Muir-Torre
Mulchandani-Bhoj-Conlin
Mullegama-Klein-Martinez
Multicentric
Multicentric carpotarsal osteolysis
Multiple
Multiple congenital anomalies-hypotonia-seizures
Multiple congenital anomalies-neurodevelopmental
Multiple mitochondrial dysfunctions
Multiple pterygium
Multiple synostoses
Multisystemic
Multisystemic smooth muscle dysfunction
Mungan
Muscular
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency
Myasthenic
Myelodysplasia
Myelodysplastic
Myhre
Myoectodermal
Myoectodermal gonadal dysgenesis
Ménétrier
NESCAV
NOR
NOR polyagglutination
Nabais
Nabais Sa-de Vries
Nablus
Nablus mask-like facial
Naegeli-Franceschetti-Jadassohn
Nail-patella
Nance-Horan
Neisseria
Nephrogenic
Nephrotic
Nestor-Guillermo
Nestor-Guillermo progeria
Netherton
Neu-Laxova
Neurocardiofaciodigital
Neurodevelopmental
Neurodevelopmental, jaw, eye, and digital
Neurodevelopmental-craniofacial
Neurofacioskeletal
Neurofibromatosis-Noonan
Neuroocular
Neurooculocardiogenitourinary
Nicolaides-Baraitser
Nijmegen
Nijmegen breakage
Nikolsky
Nivelon-Nivelon-Mabille
Nizon-Isidor
Noonan
O'Donnell-Luria-Rodan
Occipital
Occipital horn
Oculoauricular
Oculoectodermal
Oculogastrointestinal
Oculogastrointestinal neurodevelopmental
Oculoskeletodental
Ogden
Ohdo
Okur-Chung
Okur-Chung neurodevelopmental
Oligodontia-colorectal
Oligodontia-colorectal cancer
Oliver-McFarlane
Olmsted
Omenn
Onychodysplasia
Onychodystrophy
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures
Opitz
Opitz GBBB
Opitz-Kaveggia
Optic
Optic atrophy plus
Orofaciodigital
Osteootohepatoenteric
Osteoporosis-pseudoglioma
Ota
Otodental
Otodental dysplasia chromosome deletion
Otofaciocervical
Otopalatodigital
Ovarian
Ovarian hyperstimulation
PCWH
PEA
PEHO
PERCHING
PEV
Paganini-Miozzo
Pallister-Hall
Pallister-Hall-like
Pallister-Killian
Panic
Panic disorder
Papillon-Lefevre
Papillorenal
Parenti-Mignot
Parenti-Mignot neurodevelopmental
Partington
Pectus
Peeling
Peeling skin
Pelger-Huët
Pendred
Periodic
Periodic fever, immunodeficiency, and thrombocytopenia
Perlman
Perrault
Perry
Persistent
Persistent Mullerian duct
Peters-plus
Pettigrew
Peutz-Jeghers
Pfeiffer
Phelan-McDermid
Pick
Pierpont
Pierre
Pierre Robin
Pierson
Pigmentosum
Pilarowski-Bjornsson
Pitt-Hopkins
Pitt-Hopkins like
Pitt-Hopkins-like
Poirier-Bienvenu
Poirier-Bienvenu neurodevelopmental
Polycystic
Polycystic ovary
Polyendocrine-polyneuropathy
Polyposis
Pontocerebellar
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency
Popliteal
Popliteal pterygium
Poretti-Boltshauser
Potocki-Lupski
Potocki-Shaffer
Prader-Willi
Premature
Premature aging
Prieto
Primordial
Primordial dwarfism-immunodeficiency-lipodystrophy
Primrose
Proliferative
Proliferative vasculopathy and hydranencephaly-hydrocephaly
Proteasome-associated
Proteasome-associated autoinflammatory
Proteus
Proud
Prune
Prune belly
Pseudo-TORCH
Quincke
RAPADILINO
RAS-associated
RAS-associated autoimmune lymphoproliferative
RHYNS
RIDDLE
ROSAH
Rabin-Pappas
Rabson-Mendenhall
Radiation
Radiation sensitivity/chromosome instability
Radio-Tartaglia
Rafiq
Rahman
Raine
Rapp-Hodgkin
Rauch-Steindl
Raynaud-Claes
Renal
Renal cysts and diabetes
Renpenning
Restless
Restless legs
Retinal
Retinal disease in Usher
Retinal dystrophy, iris coloboma, and comedogenic acne
Retinal dystrophy, juvenile cataracts, and short stature
Rett
Revesz
Reynolds
Rhabdoid
Rhabdoid tumor predisposition
Rieger
Rigidity
Rigidity and multifocal seizure
Ring
Ring chromosome 14
Ritscher-Schinzel
Roberts-SC
Roberts-SC phocomelia
Robinow
Robinow-Sorauf
Roifman
Roifman-Chitayat
Rothmund-Thomson
Roussy-Levy
Rubinstein-Taybi
Ruijs-Aalfs
S-sulfocystéine
SAOS
SBBYSS
SERKAL
SESAME
SHORT
SIMHA
SLA
SNC
SNP
STAR
Saethre-Chotzen
Salt
Salt and pepper developmental regression
Sandestig-Stefanova
Saul-Wilson
Scalp-ear-nipple
Scanner
Scapuloperoneal
Schaaf-Yang
Schimmelpenning-Feuerstein-Mims
Schinzel-Giedion
Schinzel-Giedion midface retraction
Schopf-Schulz-Passarge
Schuurs-Hoeijmakers
Schwartz-Jampel
Scott
Sd(a)
Sd(a) polyagglutination
Seckel
Segawa
Seizures
Seizures, cortical blindness, microcephaly
Seizures, scoliosis, and macrocephaly
Sengers
Senior-Loken
Sessile
Sessile serrated polyposis cancer
Sezary
Shaheen
Shashi-Pena
Short
Short QT
Short stature-micrognathia
Shprintzen-Goldberg
Shukla-Vernon
Shwachman-Diamond
Sick
Sick sinus
Siddiqi
Sifrim-Hitz-Weiss
Silver
Silver spastic paraplegia
Silver-Russell
Simpson-Golabi-Behmel
Singleton-Merten
Sjogren-Larsson
Skin
Skin fragility-woolly hair
Skraban-Deardorff
Smith-Kingsmore
Smith-Lemli-Opitz
Smith-Magenis
Sneddon
Snijders
Snijders Blok-Campeau
Snijders Blok-Fisher
Sotos
Split-hand/foot
Split-hand/foot malformation 3, gene duplication
Spondylocarpotarsal
Spondylocarpotarsal synostosis
Spondyloocular
Sprengel
Stankiewicz-Isidor
Steel
Stevens-Johnson
Stickler
Stiff
Stiff skin
Stormorken
Stromme
Structural
Structural heart defects and renal anomalies
Sturge-Weber
Stuve-Wiedemann
Sudden
Sudden infant death
Sudden infant death with dysgenesis of the testes
Suleiman-El-Hattab
Supernumerary
Supernumerary der(22)t(8-22)
Sweeney-Cox
TARP
TSH
Takenouchi-Kosaki
Tarsal-carpal
Tarsal-carpal coalition
Tatton-Brown-Rahman
Teebi
Teebi hypertelorism
Temple
Temple-Baraitser
Temtamy
Temtamy preaxial brachydactyly
Tenorio
Tessadori-van
Tessadori-van Haaften neurodevelopmental
Tetra-amelia
Tetraamelia
Thauvin-Robinet-Faivre
Thiamine
Thiamine metabolism dysfunction
Thiamine-responsive
Thiamine-responsive megaloblastic anemia
Thoracoabdominal
Thrombocytopenia-absent
Thrombocytopenia-absent radius
Tietz
Tietz albinism-deafness
Timothy
Tn
Tn polyagglutination
Tolchin-Le
Tolchin-Le Caignec
Tonne-Kalscheuer
Tourette
Townes-Brocks
Townes-Brocks branchiootorenal-like
Traboulsi
Treacher
Treacher Collins
Treacher-Collins
Trichodontoosseous
Trichohepatoenteric
Trichohepatoneurodevelopmental
Trichorhinophalangeal
Triokinase
Triokinase and FMN cyclase deficiency
Triphalangeal
Triphalangeal thumb-polysyndactyly
Trismus-pseudocamptodactyly
Troyer
Tukel
Tumor
Tumor predisposition
Turner
Turnpenny-Fry
UV-sensitive
Ulnar-mammary
Uncombable
Uncombable hair
Urofacial
Uruguay
Uruguay faciocardiomusculoskeletal
Usher
Usmani-Riazuddin
VBIH
VEXAS
VII
VIII
VISS
Van
Van Esch-O'Driscoll
Van Maldergem
Van den Ende-Gupta
Vasculitis
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects
Velocardiofacial
Ventricular
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency
Verheij
Vertebral
Vertebral, cardiac, renal, and limb defects
Ververi-Brady
Vici
Vissers-Bodmer
Vohwinkel
Vulto-van
Vulto-van Silfout-de Vries
WAGRO
WHIM
Waardenburg
Wagner
Waisman
Warburg
Warburg micro
Warburg-Cinotti
Warsaw
Warsaw breakage
Watson
Weaver
Webb-Dattani
Weill-Marchesani
Weill-Marchesani 4
Weiss-Kruszka
Werner
West
White-Kernohan
White-Sutton
Wieacker-Wolff
Wiedemann-Rautenstrauch
Wiedemann-Steiner
Williams
Williams-Beuren
Wilms
Wilms tumor, aniridia, genitourinary anomalies and mental retardation
Wilson-Turner
Winchester
Wiskott-Aldrich
Witteveen-Kolk
Wolcott-Rallison
Wolf-Hirschhorn
Wolff-Parkinson-White
Wolfram
Wolfram-like
Woodhouse-Sakati
Woods-Black-Norbury
Wrinkly
Wrinkly skin
XFE
XFE progeroid
XI
XII
XII:c
Xeroderma
Xeroderma pigmentosum, group G/Cockayne
Xeroderma pigmentosum, type F/Cockayne
Xia-Gibbs
Xp11.22
Xp11.22 microduplication
Xq21
Xq21 deletion
Xq25
Xq25 duplication
Yao
Yoon-Bellen
Yoon-Bellen neurodevelopmental
You-Hoover-Fong
Yuan-Harel-Lupski
Yunis-Varon
ZTTK
Zaki
Zimmermann-Laband
a1
a1 and b
a10
a3
a4
aarskog-scott
abiotrophie
abnormal
abnormal hair
abruzzo-erickson
acampomelic campomelic
acanthosis
accelerated
acetazolamide-responsive
acetyl-coa
achondrogenesis ib
aciduria with
acne
acral punctate
acrocapitofemoral
acrochordon préauriculaire
acrochordon périauriculaire
acrodermatitis
acrodysostosis
acrofacial dysostosis
acromegaloid
acromicric
acropectoral
acropectorovertebral dysplasia
acth-independent macronodular
acth-secreting
acute
acute febrile
acute lymphoblastic
acute lymphoblastic leukemia
acute myeloid
acute nonlymphocytic
acute promyelocytic
acyl-coa
acétabula
adams-oliver
adductor paralysis
adelaide type
adenine dinucleotide synthetase deficiency
adenine phosphoribosyltransferase
adenomatous polyposis
adenosine
adenosine deaminase
adenosyltransferase i/iii
adenylosuccinase
adiponectin
adrenal adenoma somatic
adrenal hyperplasia
adrenal hypoplasia
adrenal insufficiency
adrenocorticotropic
adult
adult onset
adult-onset
agammaglobulinemia
agammaglobulinemia 8b
agammaglobulinémie
age-related cortical susceptibility to
age-related hearing
agenesis of
aggrecan
agnathia-otocephaly
aiblesse
aica-ribosiduria
aicardi
ain-naz
akinesia
al kaissi
al-gazali
al-gazali-bakalinova
al-raqad
alagille
albinism with sensorineural deafness
alcohol dependence
alcohol-induced
alexander disease
alkaline
alkuraya-kucinskas
allan-herndon-dudley
allergic
allo-immunisation fœtomaternelle
alopecia
alopecia areata
alpha-b crystallin-related
alpha-fetoprotein
alpha-methylacetoacetic aciduria
alpha-methylacyl-coa racemase
alpha-thalassemia myelodysplasia
alpha-thalassemia/impaired
alpha-thalassemia/mental retardation
alport
alstrom
alternating hemiplegia
alternating hemiplegia of childhood
alveolar capillary dysplasia with misalignment
alzahrani-kuwahara
alzheimer disease-
ambras
amelogenesis
amelogenesis imperfecta and skeletal
amincissement choriorétinien
amino-acidurie
aminoacidurie
aminoacidurie généralisée
aminoacylase
amish
amorph
amyotrophic lateral
amyotrophic lateral sclerosis
amyotrophic lateral sclerosis-parkinsonism/dementia
anauxetic dysplasia
and
and acne
and autistic features
and autoimmunity
and congenital heart defects
and diabetes
and enteropathy
and episodic
and genital
and immunodeficiency
and impaired
and limb
and myopia
and nail
and neurodegeneration
and palmoplantar keratoderma
and respiratory insufficiency
and sclerosing
and spasticity
and symptomatic
and testicular
androgen
anemie
aneurysmal bone cysts
angelman
angiomatoid
angiopathic
angiotensin i-converting enzyme
anisomastia
ankyrin-b-related
anneau de kayser-fleischer
annular epidermolytic
anomalie choriorétinienne
anophtalmie
anterior maxillary
antibody deficiency
antihélix anormal
antithrombin iii
antitragus
antley-bixler
aortic
aortic valve disease
apert
aplasia cutis congenita
aplastic
apolipoprotein
apolipoprotein c-iii
apolipoprotein gene cluster deletion
arboleda-tham
argininosuccinic aciduria
armfield
arnold-chiari
aromatic l-amino acid decarboxylase
arrhythmogenic right ventricular
arrhythmogenic right ventricular dysplasia
arrhythmogenic right ventricular dysplasia with mild palmoplantar keratoderma and woolly hair
arriérations mentales
arthrite juvénile
arthrochalasia
arthrogrypose
ary-épiglottiques
aréflexie
aspartate aminotransferase serum level of
asperger
aspirin-induced
asthma
asthma-related
atad3 gene cluster
ataxia-pancytopenia
ataxia-telangiectasia
ataxia-telangiectasia-like disorder
atelis
athabascan
atresie biliaire
atrioventricular septal
atrioventricular septal defect
atrophie choriorétinienne
attenuated
auditory
auditory canal
auditory neuropathy and optic
auriculaire hypoplasique/petit
auriculocondylar
autoinflammatory
autoinflammatory-pancytopenia
avellino
axillary
b
bachmann-bupp
baker-gordon
baller-gerold
band
bardet-biedl
bart
bart-pumphrey
basan
basilicata-akhtar
bazex
beaulieu-boycott-innes
beck-fahrner
becker
beckwith-wiedemann
behavioral abnormalities and neuropsychiatric
bent bone dysplasia
benzene toxicity
bernard-soulier
beta-2-adrenoreceptor
bethlem myopathy
bietti crystalline corneoretinal
bilateral
bilateral frontoparietal
bilateral perisylvian
biliary cirrhosis
billuart
biotin-responsive
biotinidase deficiency
birbeck
birk-landau-perez
bjornstad
bladder
bladder cancer
blastome pleuropulmonaire
blau
blepharocheilodontic
blomstrand
bmiq11
bombay
bone marrow failure and diabetes mellitus
boomerang
bor-duane hydrocephalus
borjeson-forssman-lehmann
bornholm eye disease
borochowitz-cormier-daire
bosma arhinia microphthalmia
bothnia retinal
boucher-neuhauser
brachydactyly-syndactyly
brainstem dysgenesis
branched-chain keto acid dehydrogenase kinase
branchiootic
breast
breast cancer
breast-ovarian
brittle cornea
brody
brooke-spiegler
brown-vialetto-van laere
bruck
brunet-wagner neurodevelopmental
brunner
buratti-harel
burn scar-related
burst-suppression
buruli
buschke-ollendorff
butterfly-shaped
butyrylcholinesterase deficiency
c1s
c2
c7 deficiency
cabezas
caffey disease
calcanéum
calcific
campomelic
camptodactylie
camptodactylie du majeur
camptodactylie métacarpophalangienne
camptodactylie partielle
camptodactylie sévère
camptodactyly
camptodactyly-arthropathy-coxa vara-pericarditis
camptothecin-resistant
canal atrio-ventriculaire
canal atrio-ventriculaire commun
canal atrioventriculaire
canal auriculoventriculaire
canal carcinoma
canal lacrymo-nasal
canal vertébral
canavan disease
cap myopathy
carbamazepine-induced
carbamoylphosphate synthetase i deficiency
carboxypeptidase
carcinoma
cardiac
cardiac arrhythmia
cardiac arrhythmias
cardiac valvular
cardiac valvular dysplasia
cardiac-urogenital
cardiofacioneurodevelopmental
carey-fineman-ziter
carnitine-acylcarnitine
carotid intimal medial
carotid intimal medial thickness
carpal
carpus curvus
cataract
catecholaminergic
catel-manzke
catifa
catshl
cayler cardiofacial
cbla
cblb
cblf
cblj
cdags
cebalid
cenani-lenz syndactyly
centronuclear
centronuclear myopathy
centrotemporal epilepsy
cerebellar
cerebellar ataxia
cerebellar ataxia brain abnormalities and cardiac
cerebellar ataxia deafness
cerebellar ataxia neuropathy
cerebellar atrophy with seizures and
cerebellar hypoplasia
cerebellar hypoplasia/atrophy epilepsy
cerebral
cerebral arteriopathy with subcortical infarcts and
cerebral creatine deficiency
cerebral dysgenesis
cerebral-cerebellar-coloboma
cerebrocostomandibular
cerebrooculofacioskeletal
cerebroretinal microangiopathy with calcifications and
cerebroretinal microangiopathy with calcifications and cysts
cerebrovascular
cervical carcinoma
chambre antérieure
chanarin-dorfman
chand
charcot-marie-tooth
charcot-marie-tooth disease
charcot-marie-tooth disease axonal
charcot-marie-tooth disease foot
charles osborne
charlevoix-saguenay
chediak-higashi
cheyne-stokes
chilblain
childhood
childhood-onset
childhood-onset stress-induced
chitotriosidase
cholestasis-lymphedema
cholesteryl
chondrodysplasie métaphysaire
chopra-amiel-gordon
chops
choroid plexus
choréo-athetoïdes
choréo-athétose
christ-siemens-touraine
christianson
chromosome 6pter-p24 deletion
chung-jansen
ciliary
cinca
cincinnati
cisplatin-induced
ck
claes-jensen
clapo
claude bernard-horner
cleft palate proliferative retinopathy and developmental
cleft palate with
clinodactylie
clouston
clumped
clumsy
cockayne
cofactor ii
cohen-gibson
col du fémur
colchicine
colobome choriorétinien
colobome choroïdien
colobome de la paupière
colobome de la paupière inférieure
colobome irien
colobome oculaire
combined
combined immunodeficiency and megaloblastic anemia with or
combined immunodeficiency with microcephaly growth retardation
compartement stéréotypique
compton-north
congenital
congenital amaurosis
congenital amegakaryocytic
congenital anomalies-hypotonia-seizures
congenital anomalies-neurodevelopmental
congenital bilateral
congenital cataract
congenital cataracts
congenital generalized
congenital heart defects
congenital myopathy with excess of muscle spindles
congenital nuclear
congenital short bowel
congenital stationary
congenital with brain and eye
congenital with impaired
congenital with inner ear
congenital with structured cores
congenital without impaired
conotruncal anomaly
conotruncal heart
contractural arachnodactyly congenital
coralliform
corne ventrale
cornelia de lange
cornée
coronary artery
coronary artery disease
cortex cérébral petit
costo-chondrales
coumarin resistance
cpt ii
cranioectodermal dysplasia
craniofacial
craniofacial-deafness-hand
craniofacial-skeletal-dermatologic
craniolenticulosutural
craniometaphyseal
craniosynostosis with radiohumeral
creatine phosphokinase
creutzfeldt-jakob
creutzfeldt-jakob disease
crigler-najjar
crohn
crohn disease
crohn disease-associated growth
crouzon
cryohydrocytosis with neurologic
crâniosynostose
crâniosynostose prématurée
culler-jones
currarino
curry-jones
curth-macklin
cystic fibrosis
cystoid
cysts 2a
cytochrome-c oxydase
czech
céphaline
d-glyceric aciduria
dandy-walker
danon
darier
davignon-chauveau
ddb-negative subtype
deafness autosomal recessive
debrisoquine
decreased urinary activity
defaillance cardiaque
dehydrated hereditary
delpire-mcneill
delta-beta thalassemia
dentatorubral-pallidoluysian
dentin
dentinogenesis
denys-drash
dermatite exfoliatrice
dermite
desanto-shinawi
desbuquois dysplasia
desmoid disease
developmental delay
developmental delay with short stature
di rocco
diabète juvénile
diamond blackfan
diamond-blackfan
diamètre antéro-postérieur
diaphyseal medullary stenosis with malignant fibrous
digenic
digenic form
digenic gjb2/
dihydrolipoamide dehydrogenase
dihydropyrimidine dehydrogenase
dilated 1b
dilated cardiomyopathy with woolly hair
dimethylglycine dehydrogenase
dimélie fibulaire
disordered
disordered steroidogenesis
disseminated superficial actinic
distichiasis
dminnution
donnai-barrow
donohue
dowling-degos
doyne honeycomb degeneration of retina
dravet
drug
drug-induced liver injury
dubin-johnson
ductus
dursun
dyschromatosis
dyskeratosis
dysostose mandibulo-faciale
dysostosis
dysostosis multiplex
dysplasia progeroid
dysplasia with congenital
dyssegmental
dystonia
dystonia-parkinsonism
dystrophie choriorétinienne
dysérythropoïèse congénitale
dégénérescence choriorétinienne progressive
e55
east texas
ectodermal
ectodermal dysplasia
ectodermal dysplasia-syndactyly
ectodermal dysplasia/short stature
ectopia lentis
edict
eeg anormal
electromyogramme anormal
electrorétinogramme
ellis-van creveld
emg
emphysema due to aat
enamel-renal
encephalopathy
encephalopathy with neuropsychiatric features
encéphalographie gazeuse
endocrine-cerebroosteodysplasia
endothelial
enlarged vestibular
enlarged vestibular aqueduct
epicanthus
epidermodysplasia
epidermolytic hyperkeratosis
epilépsie
epiphyses
episodic
episodic kinesigenic dyskinesia
erg  aboli
erg anormal
erythrokeratodermia variabilis
escobar
esophageal
estrogen
ethylmalonic
ewing
exocrine pancreatic insufficiency
extraoral halitosis
exudative vitreoretinopathy
f95 - tics
fabry disease
facial paresis
facioscapulohumeral
factor xi
factor xiiia
fanconi
fanconi renotubular
fascioscapulohumeral
fast-channel
fatty liver acute
faundes-banka
fazio-londe
feingold
female-limited
female-specific]
fente labio-palatine
fente palatine submuqueuse
fente palatine/labiale
ferguson-bonni neurodevelopmental
ferritinémie
fetal
fibrocalculous pancreatic
fibromuscular
fibrosis lung
fibula rudimentaire
finca
finkel
finnish
fissure palatine
fleck
fleck retina
fletcher factor
follicular lymphoma
fontaine progeroid
fosse postérieure
frank-ter haar
fraser
frasier
freeman-sheldon
french-canadian
frias
friedreich
friedreich ataxia
friedreich ataxia with retained
frontotemporal
frontotemporal dementia and/or
frontotemporal lobar degeneration
frontotemporal lobar degeneration with ubiquitin-positive
fuchs
fuhrmann
fumarase deficiency
fundus
fémur
galactokinase deficiency with
galactosemia iv
gand
gapo
gastric
gastric adenocarcinoma and proximal polyposis of the
gastrointestinale
gelatinous drop-like
geleophysic dysplasia
geniospasm
geroderma osteodysplasticum
gerstmann-straussler disease
gh-secreting
giant axonal
gilles de la tourette
gillessen-kaesbach-nishimura
gitelman
glaucoma 1a
glaucoma 1b
glaucoma 1c
glaucoma 1d primary open angle
glaucoma 3a
globoside
glomerulopathy with fibronectin
glomuvenous
glomérulopathie
glucocorticoid
glucocorticoid-remediable
glutaric acidemia
glutaric acidemia iia
glutaric aciduria iii
glutathione synthetase
glycerol
glycine
glycine encephalopathy with normal serum
glycoprotein iv
glycosylphosphatidylinositol
glycosylphosphatidylinositol biosynthesis defect
glyoxalase ii
glénoïde hypoplasique
goeminne tkcr
goldberg-shprintzen megacolon
gpapp
graft-versus-host
granulomatosis with polyangiitis
gray platelet
greenberg skeletal
greig cephalopolysyndactyly
griscelli
guttmacher
hackman-di donato
hailey-hailey
haim-munk
hair
hajdu-cheney
halperin-birk
hamamy
hamartomas of tongue
hardikar
harel-yoon
harp
hartnup
hartsfield
hashimoto thyroiditis
hearing
heart block
heimler
helicobacter
helsmoortel-van der aa
hemihypertrophy
hemolytic anemia
hemolytic uremic
hemophagocytic lymphohistiocytosis
hemophilia
hemophilia b
hemorrhagic
hemorrhagic diathesis
hemorrhagic telangiectasia
hengel-maroofian-schols
hennekam lymphangiectasia-lymphedema
hepatic
hepatic adenoma somatic
hepatic fibrosis susceptibility
hepatocellular
hepatorenocardiac degenerative
hereditary
hereditary benign
hereditary benign intraepithelial
hereditary congenital
hereditary fibrosing
hereditary hemorrhagic
hereditary motor
hereditary neuralgic
hereditary sensory
herpes-specific
heyn-sproul-jackson
hiatt-neu-cooper neurodevelopmental
high
hirschsprung
hispanic gamma-delta-beta
hiv
hiv/aids
hodgkin
holocarboxylase synthetase deficiency
holoprosencephaly
holt-oram
homocystinuria due to mthfr
homocystinuria-megaloblastic
homocystinurie
hsd10
humerofemoral hypoplasia with radiotibial ray
hunter-thompson
huntington
huriez
hutchinson-gilford
hyaline fibromatosis
hydatidiform
hydranencephaly with abnormal genitalia
hydro-uretère
hydrocephalus with congenital
hydrocephalus with hirschsprung
hydrolethalus
hygrome kystique
hyperammoniémie légère
hyperekplexie héréditaire
hyperferritinemia-cataract
hyperhidrosis palmaris
hyperimmunoglobulin g1
hyperinsulinism-hyperammonemia
hyperkeratotic cutaneous capillary-venous
hypermethioninemia with deficiency of
hyperostosis
hyperparathyroidism-jaw
hyperphosphatasia with impaired intellectual development
hyperplasia
hyperplastic primary
hyperréflexie
hypersensitivity
hypertonie
hypertrichosis
hypertrichotic osteochondrodysplasia
hypertriglyceridemia
hypertrophic
hypocalciuric
hypofonctionnement surrenal
hypogonadotropic hypogonadism
hypogonadotropic hypogonadism with
hypogonadotropic hypogonadism with or
hypogonadotropic hypogonadism with or without anosmia
hypogonadotropic hypogonadism without
hypohidrose
hypohidrotic/hair/nail
hypohidrotic/hair/tooth
hypohidrotic/hair/tooth/nail
hypokalemic tubulopathy and
hypomimie
hypomyelinating
hypopigmentation
hypopigmentation rétienne
hypoplasie
hypoplasie foetale
hypoplasie glénoïdienne
hypoplasie maxillaire légère
hypoplasie maxillozygomatique
hypoplasie médullosurrénalienne
hypoplasie odontoïde
hypoplasie olivo-ponto-cérébelleuse
hypoplasie pontocérébelleuse
hypoplastic
hypoplastic left heart
hypoplastic or aplastic tibia with
hyporéflexie
hyporéflexie/aréflexie
hypotonia-cystinuria
hypotrichosis-lymphedema-telangiectasia
hypotrichosis-lymphedema-telangiectasia-renal defect
ichthyosis
ichthyosis prematurity
igf1
igg2
ii
iiic
ikegawa
imagawa-matsumoto
imerslund-grasbeck
immunodeficiency
immunodeficiency 1a
immunodeficiency 1b mycobacterial and viral
immunodeficiency 3a with defective
immunodeficiency 3b with defective
immunodeficiency 3c with defective
immunodeficiency 5a
immunodeficiency 7a
immunodeficiency 7b
immunodeficiency and
immunodeficiency and autoimmunity
immunodeficiency and hyperinflammation
immunodeficiency and hypertrophic
immunodeficiency due to defect in
immunodeficiency with
immunodeficiency with autoimmunity and developmental
immunodeficiency with hypogammaglobulinemia and
immunodeficiency with pulmonary
immunodeficiency with systemic
immunodeficiency-centromeric instability-facial anomalies
immunoglobulin
immunoglobulin a deficiency
immunoskeletal dysplasia with neurodevelopmental
impaired
impaired expressive language
impaired intellectual
impaired language and dysmorphic
impaired language and gait
impaired language epilepsy
impaired responsiveness to
impaired speech
impdh2
infantile cerebellar-retinal degeneration
infantile onset
infantile-onset
infantile-onset multisystem
infection-induced
inflammatory
inhibitor deficiency
insulin resistance
insulin resistance-related
insulin-dependent
insulin-dependent neonatal
insulin-resistant
interleukin-
intervertebral
intolerance
intracranial berry
intrahepatic
intrapulmonaire récidivente
isidor-toutain
Iso Kikuchi
isolated congenital
isovaleric acidemia
iv
ivic
jackson-weiss
jacobsen
james
jansen de vries
john-milton-hagen
joubert
juberg-hayward
junctional 1a
junctional 1b
junctional 2a
junctional 2b
junctional 2c
junctional 3a
junctional 3b
junctional 5a
junctional 5b
juvenile myelomonocytic
juvenile myoclonic
juvenile recurrent
juvenile-onset
k25
k42
k65
kaeser
kallmann
kantaputra type
kanzaki
keipert
kenny-caffey
keppen-lubinsky
keratoconus
keratoendothelitis fugax
keratosis
keutel
khan-khan-katsanis
kimberley
kindler
kininogen
kininogène
kleefstra
klippel-feil
klippel-trenaunay-weber
knobloch
knops
kohlschutter-tonz
kondoh
kosaki overgrowth
kowarski
krabbe
krakow
kufor-rakeb
kyphoscoliotic
l-2-hydroxyglutaric aciduria
l-ferritin
l03 - phlegmon
l50
l68
l83
laing
lambert
laron dwarfism
laurence-moon
laurin-sandrow
lchad
legg-calve-perthes
legius
lenz-majewski hyperostotic
leri pleonosteosis
lesch-nyhan
lessel-kubisch
lethal congenital
lethal congenital contractural
leucoplasie buccale
leukocyte
leukoencephalopathy with dystonia and motor
leukoplasie
levy-shanske
lewy
leyden-moebius
li-campeau
li-ghorgani-weisz-hubshman
liang-wang
liddle
lig4
lipoma
lipoprotein
liposarcome myxoïde
lipoyltransferase
lissencephaly
lissencephaly with cerebellar
liver
liver disease severe congenital
lopes-maciel-rodan
lowe
lower extremity-predominant
lowry-wood
lumbar
lung
lung cancer
lung disease
luo-schoch-yamamoto
lupus
luscan-lumish
luteinizing
lutheran
lymphangiectasie
lymphangiectasie pulmonaire
lymphangiome
lymphatic
lymphedema-distichiasis
lymphoid hyperplasia and
lynch
lysinuric protein
lysyl hydroxylase
lèvre inférieure éversée
légère splénomégalie
léiomyome utérin
m10 - goutte
machado-joseph disease
macrothrombocytopenia and granulocyte inclusions with or
macular
macular degeneration
malan
male
male infertility
malignant hyperthermia susceptibility
mandibular
mandibuloacral
mandibulofacial dysostosis guion-almeida
mandibulofacial dysostosis with
manitoba
mantle cell
marbach-rustad progeroid
marden-walker
marfan
marfan lipodystrophy
marinesco-sjogren
maroteaux-lamy
marshall
marshall-smith
martin-probst
masp2
mast
maxillary
mcardle disease
mccune-albright
meacham
mean
meconium
meconium ileus in cystic
mednik
meesmann
meesmann corneal
meester-loeys
megacystis-microcolon-intestinal hypoperistalsis
megaloblastic
meier-gorlin
melanocytic
melanoma-pancreatic
melkersson-rosenthal
melnick-needles
mend
menke-hennekam
menton
merkel
merosin
merosin-positive
mesomelic dysplasia
metacarpal 4- fusion
metachromatic
metatarsus adductus
metatropic
methionine adenosyltransferase
methylmalonate semialdehyde dehydrogenase
methylmalonic aciduria
methylmalonic aciduria and homocysteinemia cblx
methylmalonic aciduria and homocystinuria
methylmalonic aciduria and homocystinuria cbld
mevalonic aciduria
microcephalic osteodysplastic
microcephaly
microcephaly-micromelia
microcoria
micrognathie
microsope
microtia with nasolacrimal duct imperforation
midface hypoplasia
miller
miller-dieker lissencephaly
mineralocorticoid
minicore myopathy with external
missouri
mitchell
mitchell-riley
moebius
mohr-tranebjaerg
molybdenum cofactor deficiency
molybdenum cofactor deficiency b
molybdenum cofactor deficiency c
monocarboxylate
monochromatisme
morgagni-stewart-morel
mowat-wilson
mucoepithelial
mucopolysaccharidosis
mucopolysaccharidosis ih/s
mucopolysaccharidosis ii
mucopolysaccharidosis is
mucopolysaccharidosis iva
mucopolysaccharidosis vii
muir-torre
mulchandani-bhoj-conlin
mullerian duct
multicentric carpotarsal osteolysis
multicentric osteolysis
multinucleated
multivitamin transporter
mungan
murk jansen
musculocontractural
musculoskeletal defects
myasthenia gravis with thymus hyperplasia
myasthenic
myeloperoxidase deficiency
myoclonic 2a
myoclonic-atonic
myoectodermal gonadal dysgenesis
myofibrillar myopathy
myogenic
myokymies faciales
myopathy
myopathy with
myopathy with early-onset paget disease with or without frontotemporal
myopathy with early-onset paget disease without frontotemporal
myopathy with fiber-type
myopathy with lactic
myopathy with lactic acidosis hereditary
myopathy with myalgia
myopia
myopia-
myopic
myosin
myotonia
myotonia congenita
myotonia congenita atypical
myotonic
myxoedème
myxoid liposarcoma
myélodysplasie hypoplasique
méga-uretère
mélanocytose
métacarpien
métacarpiens courts
métaphyse tibiale
métaphyse ulnaire
métaphyses humérales
metaphysal
n18
nabais
nablus mask-like facial
nail-patella
nanophthalmos
nanophthalmos-
narines antéversées
narines hypoplasiques
naxos disease
nemaline myopathy
neonatal
neonatal severe
nephropathy
nestor-guillermo progeria
neu-laxova
neuroblastoma with hirschsprung
neurocardiofaciodigital
neurocognitive phenotype
neurocutaneous melanosis
neurodevelopmental
neurodevelopmental delay
neurodevelopmental-craniofacial
neurofibromatosis-noonan
neurogenic
neurologic
neurooculocardiogenitourinary
neurosensoriel congénital
neutrophilic dermatosis
nevi flammei
newfoundland rod-cone
nicolaides-baraitser
nijmegen breakage
nivelon-nivelon-mabille
nizon-isidor
nonaka
nonerythroid
nongoitrous
nonimmune chronic
noninsulin-dependent
noninsulin-dependent late
nonspecific
noonan
nor polyagglutination
norman-roberts
north carolina
northern epilepsy
nystagmus
nævus simplex
néphrolithiase oxalique
néphrolithiase oxalo-calcique
néphrolithiase oxalocalcique
néphronophthise juvénile
occiput
ocular
oculocutaneous
oculogastrointestinal neurodevelopmental
oculomotor apraxia
odontochondrodysplasia
of pregnancy
ogden
oguchi
ohdo
okt4 epitope
okur-chung neurodevelopmental
oligodontia-colorectal cancer
oliver-mcfarlane
olmsted
omphalocele
onychodysplasie
opitz-kaveggia
ornithine transcarbamylase deficiency
orofaciodigital
osteogenesis
osteoglophonic
osteosclerotic metaphyseal
otopalatodigital
otospondylomegaepiphyseal
ovarian
ovarian carcinoma
ovarian dysgenesis
oxoglutarate dehydrogenase
oxycéphalie
p1pk
pachyonychia congenita
paganini-miozzo
palais haut
palais hypoplasique
pallister-hall
pallister-hall-like
palmo-plantaire
palmoplantar
palmoplantar hyperkeratosis
palmoplantar hyperkeratosis with squamous cell
palmoplantar keratoderma and woolly hair
palmoplantar keratoderma nagashima
palmoplantar keratoderma with congenital
pancreatic
pancreatic agenesis
pancreatic agenesis and congenital heart defects
pancreatic and cerebellar
pancreatic cancer
pancreatic carcinoma somatic
pancreatic lipase
papillon-lefevre
papillorenal
paragangliomas
paramyotonia congenita
paraparésie
parastremmatic dwarfism
parathyroid
parathyroid adenoma
parathyroid adenoma with cystic
parenti-mignot neurodevelopmental
parietal foramina
parietal foramina with cleidocranial
parkinson
parkinson disease
parkinsonism-dystonia infantile
paroxysmal extreme pain
paroxysmal nocturnal hemoglobinuria
paroxysmal nonkinesigenic
paroxysmal nonkinesigenic dyskinesia
pcwh
peho
pelger-huet
pelger-huët
pelizaeus-merzbacher
pelvic organ
pendred
penttinen
pepck deficiency
perinatal lethal
periodontitis
peripheral
peripheral arterial
peripheral neuropathy with
periventricular heterotopia with microcephaly
periventricular nodular heterotopia
perlman
peroxisomal acyl-coa oxidase
peroxisomal fatty acyl-coa
peroxisome biogenesis
peroxisome biogenesis disorder 0a
peroxisome biogenesis disorder 1a
peroxisome biogenesis disorder 2a
peroxisome biogenesis disorder 3a
peroxisome biogenesis disorder 6a
peroxisome biogenesis disorder 7a
perrault
perry
pettigrew
phalanges
phelan-mcdermid
philtrum
phosphoenolpyruvate carboxykinase
phosphoglycerate dehydrogenase
phosphoribosylaminoimidazole carboxylase
phosphoribosylpyrophosphate synthetase superactivity
phosphorylase
phosphoserine aminotransferase
pierpont
pierre robin
pierson
pigmented nodular adrenocortical
pigmented paravenous chorioretinal
pilarowski-bjornsson
pitt-hopkins
pitt-hopkins like
pitt-hopkins-like
pituitary
pituitary adenoma
pituitary adenoma acth-secreting
pityriasis rubra
pl2f/rara
placental abruption
plantaris
plasminogen
platyspondylic skeletal
pleuropulmonary
pml/rara
pneumopnie
poikiloderma with
poirier-bienvenu neurodevelopmental
poly)pointe-ondes
polyarthrite rhumatoïde
polycystic kidney disease
polycystic kidney disease infantile severe
polycystic kidney disease with or without polycystic liver disease
polycystic lipomembranous osteodysplasia with sclerosing
polycystic liver disease
polycystic liver disease with or without kidney
polycystic ovary
pontocerebellar
pontocerebellar hypoplasia
popliteal
poretti-boltshauser
porphyria
porphyria cutanea
potocki-lupski
potocki-shaffer
prader-willi
preauricular fistulae
preauricular sinus
preauricular tag
preaxial i
pregnancy
pregnancy-induced
preterm premature rupture of the
primary closed-angle
primary sclerosing
primordial dwarfism-immunodeficiency-lipodystrophy
primrose
progeroid
progressiva
prolidase deficiency
proliferative vasculopathy and hydranencephaly-hydrocephaly
properdin
prune belly
pseudoautosomal
pseudofolliculitis
pseudohypoaldosteronism
pseudohypoparathyroidism ia
pseudohypoparathyroidism ib
pseudohypoparathyroidism ic
pseudotumeur molluscoïde
pseudovaginal perineoscrotal
pseudoxanthoma
pseudoxanthoma elasticum-like disorder with
psoriatic
pterygium colli
pulmonary
pulmonary alveolar microlithiasis
punctal pits
punctate type ia
punctate type ib
pyle
pyloric stenosis
pyloric stenosis infantile
pyogenic sterile arthritis
pyogènes
pyridoxamine -phosphate
pyridoxine-dependent
pyridoxine-refractory
pyruvate dehydrogenase
pyruvate dehydrogenase e1-beta
pyruvate dehydrogenase e2
pyruvate dehydrogenase phosphatase
qtl5
quadriparésie
r51 - céphalée
r61 - hyperhidrose
rabin-pappas
radioulnar synostosis
radioulnar synostosis with amegakaryocytic thrombocytopenia
radius incurvé
rafiq
rahman
raine
rapadilino
rapp-hodgkin
rauch-steindl
raymond
recombination rate
refsum
renal agenesis
renal and limb
renal and limb defects
renal-hepatic-pancreatic dysplasia
renpenning
respiratory insufficiency
respiratory insufficiency and brain
respiratory papillomatosis
reticular dysgenesis
retinal arterial macroaneurysm with supravalvular pulmonic stenosis
retinal cone dystrophy
retinal degeneration late-onset
rett
revesz
reynolds
rh-induced
rh-null
rhabdoid
rhabdomyosarcoma
riboflavin
riboflavin-responsive
riddle
rieger
ritscher-schinzel
robinow
robinow-sorauf
roifman
roifman-chitayat
rosah
roussy-levy
rubinstein-taybi
ruijs-aalfs
sacral agenesis with vertebral
saethre-chotzen
salih myopathy
salla disease
salt-sensitive
sandestig-stefanova
sandhoff disease infantile
sanfilippo
saul-wilson
sbbyss
scapula
scapulo-péronière progressive
scapuloperoneal
schimke immunoosseous
schistosoma mansoni
schmid
schneckenbecken
schnyder
schopf-schulz-passarge
schuurs-hoeijmakers
scid
sclerosteosis
scott
scrotum
scurvy
secretory
secretory chloride
sensorineural deafness
sensorineural hearing
sensorineural hearing loss
septooptic
serkal
sessile serrated
severe
severe congenital
severe cytomegalovirus
shaheen
sheldon-hall
short stature
short-rib thoracic dysplasia
short-rib thoracic dysplasia with
short-rib thoracic dysplasia with or
short-rib thoracic dysplasia without
shprintzen-goldberg
shukla-vernon
shwachman-diamond
sick sinus
siddiqi
siderius
silver spastic paraplegia
silver-russell
silverman-handmaker
simha
sinus pilonidal
sinus préauriculaire
skeletal
sleepwalking type
slowed
smed strudwick
smith-kingsmore
smith-lemli-opitz
smith-magenis
smith-mccort
sneddon
snijders blok-campeau
snijders blok-fisher
somatic
somatic mosaic
sorbitol dehydrogenase deficiency with peripheral
sotos
sourcils
spahr
spastic
spastic ataxia
spastic paralysis
spastic paraparesis
spastic paraplegia
spastic paraplegia and psychomotor retardation
spastic quadriplegia
spastic quadriplegic
spastic tetraplegia
spastic tetraplegia and axial hypotonia progressive
specific
spermatocytic seminoma
spermatogenic
spermatogenic failure
spheroid
spinocerebellar
spinocerebellar ataxia
spondylocostal dysostosis
spondylodysplastic
spondyloepimetaphyseal
squalene
stankiewicz-isidor
stapes ankylosis with broad thumbs and toes
stein-leventhal
steiner
stevens-johnson
stevenson cutis gyrata
stocco dos santos
striatal
striatonigral degeneration
stromme
sturge-weber
stuve-wiedemann
subcortical laminal heterotopia
subcortical laminar heterotopia
subependymal
succinic semialdehyde dehydrogenase
succinyl coa:3-oxoacid coa transferase deficiency
sudden
sudden cardiac
suleiman-el-hattab
superoxide
supravalvar aortic stenosis
symoens-barnes-gistelinck
syndrome-
synostose astragalo-calcanéenne
synostose astragalocalcanéenne
synostose carpienne
synostose carpométacarpienne
synostose huméroradiale
synostose métacarpienne
synostose métacarpo-phalangienne
synostose métacarpophalangienne
synostose métatarsienne
synostose scapulo-humérale
synostose talocalcanéenne
synostose tarsiennne
synpolydactyly
synthetase deficiency
t4 basse
t68 - hypothermie
takenouchi-kosaki
tangier disease
tarsal-carpal coalition
tateyama
tcr-alpha/beta deficient
teebi hypertelorism
telomere length
temple-baraitser
tenorio
tessadori-van haaften neurodevelopmental
testicular
testicular anomalies with or without congenital heart disease
tetra-amelia
tetraamelia
tetrasomy 8p
thauvin-robinet-faivre
thiel-behnke
thrombocythemia
thrombocytopenia with
thrombophilia
thrombotic thrombocytopenic
thyrotoxic periodic paralysis
tietz albinism-deafness
timothy
to antithrombin pittsburgh
tolbutamide poor metabolizer
torrance
townes-brocks
townes-brocks branchiootorenal-like
transcobalamin ii
treacher collins
treacher-collins
trehalase
trichiase
trichilemmal cyst
trichothiodystrophy
troyer
tsc2 angiomyolipomas
tuberculosis
turner
tylosis with esophageal
ullrich congenital
uncombable hair
uretère double
uric
uridine-cytidineuria]
urocanase deficiency
uruguay
usher
usmani-riazuddin
valve mitrale
valve pulmonaire
van
van buchem
van buchem disease
van den ende-gupta
van der Woude
van der woude
van esch-odriscoll
van maldergem
vascular
vascular disease
vasculite
vasovagal
velocardiofacial
venous
ventricular
ventricular arrhythmias
ventricular septal defect
ventriculomegaly with cystic kidney disease
verheij
vertebral
vesicoureteral
vessie neurogène
vestibulo-oculaire  anormal
vestibulocerebellar disorder with predominant ocular signs
vexas
vibratory
visceral
visceral myopathy
vissers-bodmer
vitreoretinopathy with phalangeal epiphyseal
vlcad
von
von Hippel-Lindau
von hippel-lindau
vries
vulto-van silfout-de vries
vésico-urétéral
vésico-urétéro-rénal
waardenburg
wagner
waisman
warfarin
warsaw breakage
watson
weaver
weiss-kruszka
welander
werner
white sponge
white-kernohan
white-sutton
willebrand
williams-beuren
wilson disease
wilson-turner
winchester
wiskott-aldrich
with
with 6xy sex
with abnormal
with acanthosis
with amelogenesis
with ataxia
with atrichia and photophobia
with autoimmunity
with bartter
with brachydactyly
with cerebellar
with cerebellar hypoplasia and cortical
with cerebral leukoencephalopathy and systemic manifestations
with chromosomal instability somatic
with cochlear aplasia
with congenital
with congenital cataract and developmental
with deafness
with developmental
with episodic
with gingival hyperplasia
with heterotaxy
with hypercalciuric
with hyperglycinemia
with hypertrophic
with hypomyelinating
with impaired intellectual
with impaired proprioception and touch
with impaired pupillary
with juvenile macular
with limb
with male infertility
with microcephaly
with microcornea
with microvillus
with migratory circinate
with minicore
with multisystem
with myopathy and facial
with neonatal respiratory
with neurodevelopmental
with neuropsychiatric features and
with neuroserpin
with oculomotor apraxia and hypoalbuminemia
with palmoplantar
with paroxysmal
with peripheral neuropathy
with pyloric
with pyloric atresia
with respiratory insufficiency and bone
with skeletal
with spastic
with spasticity and tapetoretinal degeneration
with subcortical infarcts and
with tufting enteropathy congenital
with woolly hair and
witkop
witteveen-kolk
wolcott-rallison
wolman disease
x-linked
xeroderma
xia-gibbs
xv
yoon-bellen neurodevelopmental
yuan-harel-lupski
yunis-varon
zimmermann-laband
zollinger-ellison
épiphysite vertébrale
épithélioma baso-cellulaire
état