Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (DOID:9009102)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Dwarfism +     
Facies +     
Hearing Loss +     
3-M syndrome +   
Aarskog syndrome +   
Abuse Dwarfism Syndrome 
achondroplasia +   
acromesomelic dysplasia +   
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Aldred Syndrome 
Alopecia Contractures Dwarfism Mental Retardation 
Alstrom syndrome  
Amaurosis Hypertrichosis  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Anauxetic Dysplasia +   
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Atelosteogenesis Type 3  
autosomal dominant mental retardation 49  
autosomal recessive pericentral pigmentary retinopathy 
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Bangstad Syndrome 
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Behr syndrome  
Bilateral Hearing Loss +   
Bird Headed Dwarfism Montreal Type 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Bork Stender Schmidt Syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactylous Dwarfism Mseleni Type 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Arch Syndrome X-Linked 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Burn-Mckeown Syndrome  
C syndrome  
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cantu Sanchez-Corona Fragoso Syndrome 
cardiofaciocutaneous syndrome +   
Cerebellofaciodental Syndrome  
Chang Davidson Carlson Syndrome 
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Chondrodysplasia Calcificans Metaphysealis 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
chromosome 6pter-p24 deletion syndrome 
Chromosome Xp11.3 Deletion Syndrome  
Chromosome Xq28 Duplication Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Cockayne syndrome +   
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
Combined Pituitary Hormone Deficiency, 1  
Conductive Hearing Loss +   
Cone Dystrophy 4  
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Cone Rod Dystrophy Amelogenesis Imperfecta 
cone-rod dystrophy 1  
cone-rod dystrophy 10  
cone-rod dystrophy 11  
cone-rod dystrophy 12  
cone-rod dystrophy 13  
cone-rod dystrophy 14  
cone-rod dystrophy 16  
cone-rod dystrophy 17 
cone-rod dystrophy 19  
cone-rod dystrophy 2  
cone-rod dystrophy 20  
Cone-Rod Dystrophy 21  
cone-rod dystrophy 3  
cone-rod dystrophy 5  
cone-rod dystrophy 6  
cone-rod dystrophy 7  
cone-rod dystrophy 8 
Cone-Rod Dystrophy and Hearing Loss +   
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
congenital hypothyroidism +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Cree Mental Retardation Syndrome 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
De Sanctis-Cacchione Syndrome  
Deafness +   
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Desbuquois dysplasia +   
diastrophic dysplasia +   
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 
dominant pericentral pigmentary retinopathy 
Dubowitz syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyssegmental Dysplasia with Glaucoma 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Feingold Trainer Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Flynn Aird Syndrome 
Fryns Macrocephaly 
Fryns Syndrome 
Functional Hearing Loss 
Furukawa Takagi Nakao Syndrome 
geleophysic dysplasia +   
geroderma osteodysplasticum  
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Granddad Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hardikar Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hearing Loss, Mixed Conductive-Sensorineural +  
hereditary spastic paraplegia 23  
High-Frequency Hearing Loss  
Holoprosencephaly 10 
hypochondroplasia  
Hypotonia, Seizures, and Precocious Puberty 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
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 IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES  
intellectual developmental disorder with short stature and behavioral abnormalities  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
isolated growth hormone deficiency +   
isolated microphthalmia 5  
Jalili syndrome  
Juberg Hayward Syndrome  
Kahrizi syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Kearns-Sayre syndrome  
Kenny-Caffey Syndrome, Type 2  
Keppen-Lubinsky Syndrome  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Kniest dysplasia  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
LADD syndrome  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
Larsen-Like Syndromes +   
late-adult onset retinitis pigmentosa 
Leber congenital amaurosis 14  
Leber congenital amaurosis 3  
Leri Pleonosteosis 
Lessel-Kubisch Syndrome  
Lichtenstein Syndrome 
Light Fixation Seizure Syndrome 
Loucks-Innes Syndrome  
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macular Dystrophy with Central Cone Involvement  
Malocclusion and Short Stature 
Marfanoid Mental Retardation Syndrome, Autosomal  
McDonough Syndrome 
McPherson Clemens Syndrome 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
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 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microtia, Hearing Impairment, and Cleft Palate  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mollica Pavone Antener Syndrome 
Mowat-Wilson syndrome  
mulibrey nanism  
Multiple Pterygium Syndrome, X-Linked 
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
NARP syndrome  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
Newfoundland cone-rod dystrophy  
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Nievergelt Syndrome 
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Oculopalatocerebral Syndrome 
Oculoskeletodental Syndrome  
Oculotrichodysplasia 
Oliver-McFarlane syndrome  
Omodysplasia 2  
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
Oroacral Syndrome, Verloes-Koulischer Type 
Osteolysis Syndrome, Recessive 
Otoonychoperoneal Syndrome 
otospondylomegaepiphyseal dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Palant Cleft Palate Syndrome 
parastremmatic dwarfism  
Partington Anderson Syndrome 
Peripheral Cone Dystrophy 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Palm Teller Syndrome 
PHARC syndrome  
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pigmentary Retinopathy and Sensorineural Deafness  
Posterior Column Ataxia with Retinitis Pigmentosa  
Progeroid Facial Appearance with Hand Anomalies 
Progressive Pallidal Degeneration with Retinitis Pigmentosa 
Proportionate Dwarfism, with Hip Dislocation 
Pseudodiastrophic Dysplasia 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Reardon Wilson Cavanagh Syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Retinal Cone Dystrophy 3A  
Retinal Cone Dystrophy 3B  
Retinal Cone Dystrophy 4  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 12  
retinitis pigmentosa 13  
retinitis pigmentosa 14  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 19  
retinitis pigmentosa 2  
retinitis pigmentosa 20  
retinitis pigmentosa 22 
retinitis pigmentosa 23  
retinitis pigmentosa 24 
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 27  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 3  
retinitis pigmentosa 30  
retinitis pigmentosa 31  
retinitis pigmentosa 32 
retinitis pigmentosa 33  
retinitis pigmentosa 34 
retinitis pigmentosa 35  
retinitis pigmentosa 36  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 39  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 42  
retinitis pigmentosa 43  
retinitis pigmentosa 44  
retinitis pigmentosa 45  
retinitis pigmentosa 46  
retinitis pigmentosa 47  
retinitis pigmentosa 48  
retinitis pigmentosa 49  
retinitis pigmentosa 50  
retinitis pigmentosa 51  
retinitis pigmentosa 54  
retinitis pigmentosa 55  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 58  
retinitis pigmentosa 59  
retinitis pigmentosa 6 
retinitis pigmentosa 60  
retinitis pigmentosa 61  
retinitis pigmentosa 62  
retinitis pigmentosa 63 
retinitis pigmentosa 66  
retinitis pigmentosa 67  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
Retinitis Pigmentosa 76  
retinitis pigmentosa 77  
Retinitis Pigmentosa 78  
Retinitis Pigmentosa 79  
Retinitis Pigmentosa 80  
retinitis pigmentosa 81  
Retinitis Pigmentosa 83  
Retinitis Pigmentosa 84  
Retinitis Pigmentosa 85  
Retinitis Pigmentosa 86  
Retinitis Pigmentosa 87  
Retinitis Pigmentosa 88  
retinitis pigmentosa 9  
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS  
Retinitis Pigmentosa Inversa with Deafness 
retinitis pigmentosa with or without situs inversus  
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium 
retinitis pigmentosa Y-linked 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Retinitis Pigmentosa, Late-Onset Dominant  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
RHYNS Syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Roifman-Chitayat Syndrome 
Rommen Mueller Sybert Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Senior-Loken Syndrome 4  
sensorineural hearing loss +   
Severe Growth Restriction with Distinctive Facies  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
An autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging. (OMIM)
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature-Obesity Syndrome 
short-rib thoracic dysplasia 9 with or without polydactyly  
Shprintzen Omphalocele Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Singh Chhaparwal Dhanda Syndrome 
Snijders Blok-Campeau Syndrome  
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spinocerebellar Ataxia with Dysmorphism 
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Turner type  
Synovial Chondromatosis, Familial, with Dwarfism 
Tapetoretinal Degeneration with Ataxia 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Thrombocytopenia Robin Sequence 
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
Tryptophanuria with Dwarfism 
Turnpenny-Fry Syndrome  
Unilateral Deafness with Delayed Endolymphatic Hydrops  
Unilateral Hearing Loss +   
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
Weill-Marchesani syndrome +   
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked cone-rod dystrophy 3  
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: SHRF
Primary IDs: OMIM:617763

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.