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46,XX Gonadal Dysgenesis Epibulbar Dermoid
46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
age related macular degeneration +
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
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
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 +
Bannayan-Riley-Ruvalcaba syndrome
Beare-Stevenson cutis gyrata syndrome
benign familial hematuria
bilateral optic nerve hypoplasia
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brown-Vialetto-Van Laere syndrome +
bullous congenital ichthyosiform erythroderma
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carney-Stratakis syndrome
cerebrocostomandibular 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
cleidocranial dysplasia +
COL4A1-related familial vascular leukoencephalopathy
complex cortical dysplasia with other brain malformations +
congenital adrenal insufficiency
congenital central hypoventilation syndrome
congenital dyserythropoietic anemia type IV
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 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
cortisone reductase deficiency 2
craniometaphyseal dysplasia +
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy +
D-2-hydroxyglutaric aciduria 2
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
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
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
dysplastic nevus 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
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
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
fibrodysplasia ossificans progressiva
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
giant axonal neuropathy 2
gnathodiaphyseal dysplasia
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis
Gonadal Dysgenesis, XX Type, with Deafness +
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal lobar degeneration with TDP43 inclusions
hand-foot-genital 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
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hyperferritinemia-cataract syndrome
hypertension and brachydactyly syndrome
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
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
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 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
juvenile polyposis syndrome +
lateral meningocele syndrome
lattice corneal dystrophy +
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Lenz-Majewski hyperostotic dwarfism
lymphedema-distichiasis syndrome +
macrocephaly-autism syndrome
mandibulofacial dysostosis, Guion-Almeida type
maturity-onset diabetes of the young +
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
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Miller-Dieker lissencephaly syndrome
mitochondrial DNA depletion syndrome 12a
Miura type epiphyseal chondrodysplasia
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multiple cutaneous and mucosal venous malformations
Multiple Endocrine Neoplasia +
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
nephrotic syndrome type 4
neurodegeneration with brain iron accumulation 3
nevoid basal cell carcinoma syndrome +
ocular albinism with sensorineural deafness
Opitz GBBB Syndrome, Type II
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2 +
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
ovarian dysgenesis 8 A disease characterized by complete lack of estrogen action, resulting in absent breast development, primary amenorrhea, and osteoporosis.
Pallister-Hall syndrome +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
permanent neonatal diabetes mellitus +
photosensitive trichothiodystrophy +
polycystic liver disease +
popliteal pterygium syndrome +
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
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
punctate palmoplantar keratoderma type III
retinitis pigmentosa-deafness syndrome
Rubinstein-Taybi syndrome +
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
solitary median maxillary central incisor
Sorsby's fundus dystrophy
speech-language disorder-1
split hand-foot malformation 1
split hand-foot malformation 4
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
STING-associated vasculopathy with onset in infancy
tarsal-carpal coalition syndrome
Thiel-Behnke corneal dystrophy
tibial muscular dystrophy
torsion dystonia with onset in infancy
transthyretin amyloidosis
Treacher Collins syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
uveal coloboma-cleft lip and palate-intellectual disability
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
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