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Term With Siblings |
Child Terms |
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Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Alopecia Congenita Keratosis Palmoplantaris +
Alopecia Contractures Dwarfism Mental Retardation
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia, Hypogonadism, Extrapyramidal Disorder
alopecia, neurologic defects, and endocrinopathy syndrome
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alopecia-mental retardation syndrome +
Alves Castelo dos Santos Syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis and Ectodermal Dysplasia
atrichia with papular lesions
autosomal dominant keratosis follicularis spinulosa decalvans
Axenfeld-Rieger syndrome type 1
Baraitser-Winter syndrome +
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
brachycephaly, trichomegaly, and developmental delay
Brachytelephalangy Characteristic Facies Kallmann
Braddock Carey Syndrome +
Bullous Dystrophy, Hereditary Macular Type
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
cartilage-hair hypoplasia
Central Centrifugal Cicatricial Alopecia
Cerebellar Ataxia and Ectodermal Dysplasia
cerebellofaciodental syndrome
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
chemotherapy-induced alopecia
chromosome 17q11.2 deletion syndrome
chromosome 5p13 duplication syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cold-induced sweating syndrome +
Combined Pituitary Hormone Deficiency 1
Congenital Alopecia X-Linked
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
Congenital Ectodermal Dysplasia with Hearing Loss
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Micromelic Dysplasia with Dislocation of Radius +
Cortical Blindness, Retardation, and Postaxial Polydactyly
cranioectodermal dysplasia +
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Cutaneous Telangiectasia and Cancer Syndrome, Familial
Cyprus Facial Neuromusculoskeletal Syndrome
Deafness with Anhidrotic Ectodermal Dysplasia
Deafness-Craniofacial Syndrome
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
Der Kaloustian Mcintosh Silver Syndrome
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
developmental delay, dysmorphic facies, and brain anomalies
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
diphthamide deficiency syndrome 2
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal 10q deletion syndrome
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Ectodermal Dysplasia Adrenal Cyst
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal Dysplasia-Skin Fragility Syndrome
Ectodermal Dysplasia-Syndactyly Syndrome +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ectrodactyly Cardiopathy Dysmorphism
Edinburgh Malformation Syndrome
Ellis-Van Creveld syndrome +
Euhidrotic Ectodermal Dysplasia
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Faciocardiomelic Syndrome
Feingold Trainer Syndrome
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Focal Facial Dermal Dysplasia +
Follicular Hamartoma, Alopecia, Cystic Fibrosis
Freire-Maia Odontotrichomelic Syndrome
frontal fibrosing alopecia
Gingival Fibromatosis with Distinctive Facies
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Gomez Lopez Hernandez Syndrome
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Halal Setton Wang Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hay Wells Syndrome Recessive Type
hereditary spastic paraplegia 23
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hypergonadotropic Hypogonadism and Partial Alopecia
hypohidrotic ectodermal dysplasia +
Hypotonia, Seizures, and Precocious Puberty
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Intellectual Developmental Disorder with Autism and Dysmorphic Facies
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
intellectual developmental disorder with ocular anomalies and distinctive facial features
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
Iris Dysplasia Hypertelorism Deafness
Jagell Holmgren Hofer Syndrome
Johanson-Blizzard syndrome
Johnson Neuroectodermal Syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Kaufman oculocerebrofacial syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Kuster Majewski Hammerstein Syndrome
Ladda Zonana Ramer Syndrome
linear skin defects with multiple congenital anomalies 2
loose anagen hair syndrome +
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
macrocephaly-autism syndrome
Malocclusion and Short Stature
mandibulofacial dysostosis with alopecia
Marfanoid Mental Retardation Syndrome, Autosomal
McPherson Clemens Syndrome
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Microcephaly Deafness Syndrome
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Multiple Pterygium Syndrome, X-Linked
Myoectodermal Gonadal Dysgenesis Syndrome
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
neurodevelopmental disorder with speech impairment and dysmorphic facies
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
Night Blindness Skeletal Anomalies Unusual Facies
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
nonsyndromic aplasia cutis congenita
Oculoskeletodental Syndrome
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Ohdo syndrome, SBBYS variant
Oroacral Syndrome, Verloes-Koulischer Type
Osteolysis Syndrome, Recessive
Otoonychoperoneal Syndrome
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Palant Cleft Palate Syndrome
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Papillon-Lefevre disease +
Partington Anderson Syndrome
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
Perniola Krajewska Carnevale Syndrome
Pfeiffer Palm Teller Syndrome
photosensitive trichothiodystrophy 1
Pierre Robin Sequence with Facial and Digital Anomalies
Pinheiro Freire-Maia Miranda Syndrome
Preaxial Hallucal Polydactyly
Preaxial Polydactyly II +
Progeroid Facial Appearance with Hand Anomalies
pure hair and nail ectodermal dysplasia +
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Renal and Mullerian Duct Hypoplasia +
Renal Dysplasia - Limb Defects Syndrome
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Robinson Miller Bensimon Syndrome
Roifman-Chitayat Syndrome
Rosselli-Gulienetti Syndrome
scalp-ear-nipple syndrome
Schinzel Giedion syndrome
Schopf-Schulz-Passarge syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Seres-Santamaria Arimany Muniz Syndrome
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Shprintzen Omphalocele Syndrome
Silver-Russell Syndrome 3
Snijders Blok-Campeau Syndrome
Spinocerebellar Ataxia with Dysmorphism
spondyloepiphyseal dysplasia tarda with characteristic facies
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stolerman neurodevelopmental syndrome
syndromic X-linked intellectual disability Turner type
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Taurodontia, Absent Teeth, Sparse Hair
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Thomas Jewett Raines Syndrome
Thumb Deformity and Alopecia
Thumb Deformity, Alopecia, Pigmentation Anomaly
trichohepatoenteric syndrome +
Trichoodontoonychial Dysplasia
trichorhinophalangeal syndrome type III
Trueb Burg Bottani Syndrome
Urban Schosser Spohn Syndrome
Uruguay faciocardiomusculoskeletal syndrome
White Forelock with Malformations
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Woodhouse-Sakati syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
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| Synonyms |
| Exact Synonyms: |
Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance
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| Primary IDs: |
MESH:C538016
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| Alternate IDs: |
RDO:0003951 |
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