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22q11 Deletion Syndrome +
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
acromesomelic dysplasia +
Acropectorovertebral Dysplasia
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
age related macular degeneration +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia
anterior segment dysgenesis +
apolipoprotein C-III deficiency +
APP-related cerebral amyloid angiopathy
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
Arthrogryposis Multiplex Congenita Whistling Face
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
atrial heart septal defect 2
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Alport syndrome
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant chronic granulomatous disease
autosomal dominant cutis laxa +
autosomal dominant distal hereditary motor neuronopathy +
Autosomal Dominant Dyskeratosis Congenita +
autosomal dominant Emery-Dreifuss muscular dystrophy 4
autosomal dominant Emery-Dreifuss muscular dystrophy 5
autosomal dominant Emery-Dreifuss muscular dystrophy 7
autosomal dominant endosteal hyperostosis
autosomal dominant familial periodic fever
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant mental retardation 55
autosomal dominant mental retardation 56
autosomal dominant microcephaly +
autosomal dominant nocturnal frontal lobe epilepsy +
autosomal dominant non-syndromic intellectual disability +
autosomal dominant nonsyndromic deafness +
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant polycystic kidney disease +
autosomal dominant progressive external ophthalmoplegia 1
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant sensory ataxia 1
autosomal dominant sideroblastic anemia 4
autosomal dominant type IV Ehlers-Danlos syndrome +
autosomal dominant Wolfram syndrome
Axenfeld-Rieger syndrome +
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter syndrome +
Beare-Stevenson cutis gyrata syndrome
benign familial hematuria
bilateral optic nerve hypoplasia
Blepharochalasis and Double Lip
blepharocheilodontic syndrome +
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
blepharophimosis, ptosis, and epicanthus inversus syndrome
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
branchiooculofacial syndrome
branchiootorenal syndrome +
Brown-Vialetto-Van Laere syndrome +
bullous congenital ichthyosiform erythroderma
Camptodactyly Syndrome Guadalajara Type 2
Camurati-Engelmann disease +
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carney-Stratakis syndrome
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME
cerebrocostomandibular syndrome
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Cerebrooculonasal Syndrome
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate A
Charcot-Marie-Tooth disease dominant intermediate B +
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease dominant intermediate G
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2 +
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease, axonal type 2W
childhood onset GLUT1 deficiency syndrome 2
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
Chondrodysplasia with Joint Dislocations, GPAPP Type
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia
Chondrodysplasia, Megarbane-Dagher-Melki Type
chondrodysplasia-pseudohermaphroditism syndrome
chromosome 13q14 deletion syndrome
chromosome 17q11.2 deletion syndrome, 1.4Mb
Chromosome 18 Pericentric Inversion
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia + Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
COL4A1-related familial vascular leukoencephalopathy
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
combined oxidative phosphorylation deficiency 2
complex cortical dysplasia with other brain malformations +
congenital adrenal insufficiency
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital central hypoventilation syndrome
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
congenital dyserythropoietic anemia type IV
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
Congenital Micromelic Dysplasia with Dislocation of Radius +
congenital muscular dystrophy due to LMNA mutation
congenital myasthenic syndrome 18
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 7
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
cortisone reductase deficiency 2
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
craniometaphyseal dysplasia +
Craniomicromelic Syndrome
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy +
Curly Hair-Acral Keratoderma-Caries Syndrome
Czech Dysplasia, Metatarsal Type
D-2-hydroxyglutaric aciduria 2
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
Diaphanospondylodysostosis
Digitorenocerebral Syndrome
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1II
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
Dyschondrosteosis and Nephritis
dysplastic nevus syndrome +
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ellis-Van Creveld syndrome +
epidermolysis bullosa simplex Dowling-Meara type
epidermolysis bullosa simplex generalized type +
epidermolysis bullosa simplex localized type
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with mottled pigmentation
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Faciocardiomelic Syndrome
familial apolipoprotein A5 deficiency
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial erythrocytosis 1
familial erythrocytosis 3
familial erythrocytosis 5
familial hypocalciuric hypercalcemia +
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial progressive hyperpigmentation with or without hypopigmentation
familial temporal lobe epilepsy 1
familial temporal lobe epilepsy 2
familial temporal lobe epilepsy 3
familial temporal lobe epilepsy 4
familial temporal lobe epilepsy 5
familial temporal lobe epilepsy 6
familial temporal lobe epilepsy 7
familial temporal lobe epilepsy 8
Fanconi anemia complementation group R
Faye-Petersen Ward Carey Syndrome
fibrodysplasia ossificans progressiva
Fibrous Dysplasia of Bone +
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
Fraser Jequier Chen Syndrome
Fronto-Facio-Nasal Dysplasia
Frontometaphyseal Dysplasia +
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Ghosal Hematodiaphyseal Dysplasia
giant axonal neuropathy 2
gnathodiaphyseal dysplasia
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal lobar degeneration with TDP43 inclusions
Hall Riggs Mental Retardation Syndrome
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia +
hereditary multiple exostoses +
hereditary neuropathy with liability to pressure palsies
hereditary sensory and autonomic neuropathy type 1A
hereditary sensory and autonomic neuropathy type 1C
hereditary sensory and autonomic neuropathy type 7
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type 1D
hereditary sensory neuropathy type 1E
hereditary sensory neuropathy type 1F
hereditary spastic paraplegia 10
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 17
hereditary spastic paraplegia 19
hereditary spastic paraplegia 29
hereditary spastic paraplegia 31
hereditary spastic paraplegia 33
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 6
hereditary spastic paraplegia 72
hereditary spastic paraplegia 73
hereditary spastic paraplegia 8
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
Humeroradial Synostosis with Craniofacial Anomalies
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hyperferritinemia-cataract syndrome
Hyperostosis Frontalis Interna +
hypertension and brachydactyly syndrome
hypertrichotic osteochondrodysplasia Cantu type
hypogonadotropic hypogonadism 14 with or without anosmia
hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadotropic hypogonadism 16 with or without anosmia
hypogonadotropic hypogonadism 17 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 19 with or without anosmia
hypogonadotropic hypogonadism 2 with or without anosmia +
hypogonadotropic hypogonadism 20 with or without anosmia
hypogonadotropic hypogonadism 21 with or without anosmia
hypogonadotropic hypogonadism 3 with or without anosmia
hypogonadotropic hypogonadism 4 with or without anosmia
hypogonadotropic hypogonadism 5 with or without anosmia +
hypogonadotropic hypogonadism 6 with or without anosmia
hypogonadotropic hypogonadism 9 with or without anosmia
hypomyelinating leukodystrophy 6
hypoparathyroidism-retardation-dysmorphism syndrome
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Ichthyosis Cheek Eyebrow Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
inflammatory bowel disease 21
inflammatory bowel disease 3
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
intellectual disability-severe speech delay-mild dysmorphism syndrome
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome +
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
Jansen's metaphyseal chondrodysplasia
Jequier Kozlowski Skeletal Dysplasia
Jones Hersh Yusk Syndrome
juvenile polyposis syndrome +
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis
Kozlowski Tsuruta Taki Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
lateral meningocele syndrome
lattice corneal dystrophy +
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
Linear Skin Defects with Multiple Congenital Anomalies 2
lymphedema-distichiasis syndrome +
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
macrocephaly-autism syndrome
Mandibuloacral Dysplasia with Type B Lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
mandibulofacial dysostosis, Guion-Almeida type
maturity-onset diabetes of the young +
Maxillofacial Abnormalities +
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
melanoma and neural system tumor syndrome
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Savarirayan Type
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia without Hypotrichosis
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
Metaphyseal Dysplasia, Braun-Tinschert Type
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
Microcephaly-Micromelia Syndrome
Micromelic Dwarfism Fryns Type
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Miller-Dieker lissencephaly syndrome
mitochondrial DNA depletion syndrome 12a
Miura type epiphyseal chondrodysplasia
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple cutaneous and mucosal venous malformations
Multiple Endocrine Neoplasia +
multiple epiphyseal dysplasia +
multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2
multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia with myopia and deafness
Multisystem Autoimmune Disease, with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nablus Mask-Like Facial Syndrome
nephrotic syndrome type 4
neurodegeneration with brain iron accumulation 3
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
ocular albinism with sensorineural deafness
Oculoauriculofrontonasal syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculodentodigital Dysplasia, Autosomal Recessive
Oculootofacial Dysplasia +
Opitz GBBB Syndrome, Type II
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
Osteodysplasia, Familial, Anderson Type
osteogenesis imperfecta +
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2 +
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
Oto-Palato-Digital Syndrome Type 1
Oto-Palato-Digital Syndrome, Type 2
Otofacioosseous-Gonadal Syndrome
Otopalatodigital Spectrum Disorder
otospondylomegaepiphyseal dysplasia
Pallister-Hall syndrome +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
permanent neonatal diabetes mellitus +
photosensitive trichothiodystrophy +
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
polycystic liver disease +
popliteal pterygium syndrome +
Posterior Exchondrosis of Pinna
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
Preauricular Fistulae, Congenital
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
primary failure of tooth eruption
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive myoclonus epilepsy 7
progressive pseudorheumatoid arthropathy of childhood
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
punctate palmoplantar keratoderma type III
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
retinitis pigmentosa-deafness syndrome
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Schaefer Stein Oshman Syndrome
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias
Schinzel-Giedion Syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
Short Stature and Facioauriculothoracic Malformations
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Simosa Cranio Facial Syndrome
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
solitary median maxillary central incisor
Sorsby's fundus dystrophy
speech-language disorder-1
Spinal Dysplasia, Anhalt Type
Splenogonadal Fusion Limb Defects Micrognatia
split hand-foot malformation 1
split hand-foot malformation 4
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy
Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Spondyloepiphyseal Dysplasia, Maroteaux Type
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
Spondyloepiphyseal Dysplasia, Nishimura Type
Spondyloepiphyseal Dysplasia, Stanescu Type
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Spondylometaphyseal Dysplasia, Algerian Type
Spondylometaphyseal Dysplasia, Axial
Spondylometaphyseal Dysplasia, East-African Type
Spondylometaphyseal Dysplasia, Kozlowski Type
Spondylometaphyseal Dysplasia, Sedaghatian Type
Spondylometaphyseal Dysplasia, Type A4
Spondylometaphyseal Dysplasia, X-Linked
Spondyloocular Syndrome, Autosomal Recessive
Spondyloperipheral Dysplasia
Spondylospinal Thoracic Dysostosis
STING-associated vasculopathy with onset in infancy
syndromic X-linked intellectual disability Abidi type
tarsal-carpal coalition syndrome
Teebi Naguib Al Awadi syndrome
Terminal Osseous Dysplasia and Pigmentary Defects
thanatophoric dysplasia +
Thiel-Behnke corneal dystrophy
Thoracolaryngopelvic Dysplasia
tibial muscular dystrophy
Tollner Horst Manzke Syndrome
torsion dystonia with onset in infancy
Tracheobronchopathia Osteoplastica
transthyretin amyloidosis
Treacher Collins syndrome +
Tricho-Dento-Osseous Syndrome
Trichorhinophalangeal Syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
Ulna Metaphyseal Dysplasia Syndrome
Urioste Martinez-Frias Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Verloes Van Maldergem Marneffe Syndrome
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities
Zimmerman Laband Syndrome +
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| Synonyms |
| Exact Synonyms: |
CCD
;
Marie Sainton syndrome
;
Marie-Sainton disease
;
Scheuthauer Marie Sainton syndrome
;
cleidocranial digital dysostoses
;
cleidocranial digital dysostosis
;
cleidocranial dysostoses
;
cleidocranial dysplasias
|
| Narrow Synonyms: |
CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY
;
CLEIDOCRANIAL DYSOSTOSIS
;
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE
;
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
;
severe cleidocranial dysplasia with osteoporosis and scoliosis
|
| Primary IDs: |
MESH:D002973
|
| Alternate IDs: |
OMIM:119600
;
RDO:0000086
|
| Xrefs: |
GARD:6118
;
ICD10CM:Q74.0
;
NCI:C75020
;
ORDO:1452
|
| Definition Sources: |
MESH:D002973, http://en.wikipedia.org/wiki/Cleidocranial_dysostosis, http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, http://www.faces-cranio.org/Disord/CCD.htm, http://www.healthline.com/galecontent/cleidocranial-dysplasia-1, http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, http://www.umm.edu/ency/article/001589.htm |
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