TBL1X - transducin beta like 1 X-linked Gene

CHNG8

Congenital Nongoitrous Hypothyroidism 8

Hypothyroidism, Congenital, Non-Goitrous, 8

Hypothyroidism, Congenital, Nongoitrous, Type 8

Albinism, Ocular

Oa

Xloa

Albinism Ocular

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Gonococcal Prostatitis

FEB10

Familial Febrile Seizures 10

Convulsions, Familial Febrile, 10

Familial Febrile Convulsions 10

Febrile Convulsions, Familial, 10

SPG84

Hereditary Spastic Paraplegia 84

Spastic Paraplegia 84 Autosomal Recessive

Doid:0112347

SPG85

Hereditary Spastic Paraplegia 85

Spastic Paraplegia 85 Autosomal Recessive

Doid:0112345

SPG86

Hereditary Spastic Paraplegia 86

Spastic Paraplegia 86 Autosomal Recessive

Doid:0112342

Cataract 9 Multiple Types

CTRCT9

Cataract, Autosomal Dominant

Catc1

Cataract 9, Multiple Types, With Or Without Microcornea

Cataract, Autosomal Recessive Congenital 1

Autosomal Recessive Congenital Cataract 1

Cataract 9 Multiple Types With Or Without Microcornea

Autosomal Dominant Congenital Cataract

Cataract Autosomal Dominant

Cataracts, Autosomal Dominant

JBTS6

Joubert Syndrome, Type 6

Hypomyelinating Leukodystrophy 3

HLD3

Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation

Leukodystrophy, Hypomyelinating 3

Perinatal Sudanophilic Leukodystrophy

Leukodystrophy, Hypomyelinating, Type 3

Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2

EIG3

Idiopathic Generalized Epilepsy 3

Epilepsy, Idiopathic Generalized, Susceptibility To, 3

Epilepsy, Idiopathic Generalized Locus On Chromosome 9

Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 9

Epilepsy, Idiopathic Generalized, Susceptibility To 3

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Alveolitis Due To Aspergillus Clavatus

Malt Worker Lung

Malt Workers' Lung

Malt-Workers' Lung

Malt Fever

Malt House Workers' Cough

Malt-Workers' Alveolitis

Malt-Workers' Lung Disease

Alveolitis Due To Aspergillus Fumigatus

Extrinsic Allergic Alveolitis Due To Aspergillus Spp

Mrx89

SPGF24

MRX92

Intellectual Developmental Disorder, X-Linked 92

Non-Syndromic X-Linked Intellectual Disability 92

X-Linked Mental Retardation 92

Mental Retardation, X-Linked, Type 92

RHS

Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate

Ectodermal Dysplasia, Rapp-Hodgkin Type

Rapp-Hodgkin Ectodermal Dysplasia Syndrome

Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate

Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type

Edrh

Rapp-Hodgkin Ectodermal Dysplasia

Orofacial Cleft 8

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

ECTD5

Ectodermal Dysplasia 5

ECTD6

Ectodermal Dysplasia 6

ECTD7

Ectodermal Dysplasia 7

Dysplasia, Ectodermal, Type 7, Hair/Nail

EIG2

Epilepsy, Idiopathic Generalized, Susceptibility To, 2

Idiopathic Generalized Epilepsy 2

Epilepsy, Idiopathic Generalized Locus On Chromosome 14

Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14

RP44

Retinitis Pigmentosa, Type 44

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Autosomal Dominant Spastic Paraplegia 51

Cpsq4

Spastic Quadriplegic Cerebral Palsy 4

Spg51

Spastic Paraplegia 51, Autosomal Recessive

Methylmalonic Acidemia Cbla Type

Methylmalonic Aciduria Cbla Type

Methylmalonic Acidemia, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla

Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla

Methylmalonic Aciduria Type Cbla

MMAA

Methylmalonic Aciduria Type A

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A

Aciduria, Methylmalonic, Cbla Type

Methylmalonic Aciduria Cbla Type

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal