POLR1D - RNA polymerase I and III subunit D Gene

TCS2

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Acrofacial Dysostosis Cincinnati Type

AFDCIN

Dysostosis, Acrofacial, Cincinnati Type

Miller Syndrome

POADS

Genee-Wiedemann Syndrome

Postaxial Acrodysostosis

Genee-Wiedemann Acrofacial Dysostosis

Acrofacial Dysostosis, Genee-Wiedmann Type

Mandibulfacial Dysostosis With Postaxial Limb Anomalies

Gwafd

Poads Syndrome

Postaxial Acrofacial Dysostosis Syndrome

Wildervanck-Smith Syndrome

Acrofacial Dysostosis, Genee-Wiedemann Type

Mandibulofacial Dysostosis With Postaxial Limb Anomalies

Genée-Wiedemann Syndrome

Chromosome 11p Deletion Syndrome

COFS2

Cerebro-Oculo-Facio-Skeletal Syndrome 2

Cofs Syndrome

HH5

Kallmann Syndrome 5

Kal5

Hypogonadotropic Hypogonadism 5 Without Anosmia

Hypogonadism, Hypogonadotropic, Type 5 With/Without Anosmia

Nager Syndrome

Nager Acrofacial Dysostosis

AFD1

Preaxial Acrofacial Dysostosis

Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies

Afd, Nager Type

Nager Acrofacial Dysostosis Syndrome

Nafd

Acrofacial Dysostosis, Nager Type

Afd

Preaxial Manibulofacial Dysostosis

Split Hand Deformity-Mandibulofacial Dysostosis

Preaxial Mandibulofacial Dysostosis

Mandibulofacial Dysostosis With Preaxial Limb Anomalies

Preaxial Acrodysostosis

Afd Nager Type

Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies

Goldenhar Syndrome

Hemifacial Microsomia

Oculoauriculovertebral Spectrum

Oavs

Oculo-Auriculo-Vertebral Spectrum

CFM

Oav Dysplasia

Facioauriculovertebral Sequence

Fav Sequence

First And Second Branchial Arch Syndrome

Otomandibular Dysostosis

Hfm

Oculoauriculovertebral Dysplasia

Facio-Auriculo-Vertebral Spectrum

Facioauriculovertebral Dysplasia

Oculo-Auriculo-Vertebral Dysplasia

First Arch Syndrome

Oav Dysplasia

Goldenhar Disease

Expanded Spectrum Hemifacial Microsomia

Expanded Spectrum Of Hemifacial Microsomia

Oculoauriculovertebral Syndrome

Oavd

Asymmetric Hypoplasia Of Facial Structures

Auriculobranchiogenic Dysplasia

Fav

First And Second Pharyngeal Arch Syndromes

Goldenhar-Gorlin Syndrome

Lateral Facial Dysplasia

Oav Complex

Oral-Mandibular-Auricular Syndrome

Unilateral Intrauterine Facial Necrosis

Unilateral Mandibulofacial Dysostosis

Oav Spectrum

Oculoauricular Vertebral Dysplasia

Microsomia, Hemifacial

Goldenhar Syndrome With Ipsilateral Radial Defect

TCS3

Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive

Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive

BWCNS

Bowen Hutterite Syndrome

Bowen-Conradi Hutterite Syndrome

Bowen Syndrome, Hutterite Type

Bowen Hutterite Syndrome, Formerly

Hutterite Syndrome

Bowen Syndrome Hutterite Type

Fetal Growth Retardation

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Myoclonic Dystonia

Myoclonus-Dystonia Syndrome

DYT11

Myoclonic Dystonia 11

Alcohol-Responsive Dystonia

Myoclonus, Hereditary Essential

Dystonia-11, Myoclonic

Myoclonus-Dystonia

Dystonia 11

Hereditary Essential Myoclonus

Dystonia, Alcohol-Responsive

Dyt-Sgce

Dystonia, Alcohol Responsive

Dystonia-11

Dystonia, Myoclonic

Dystonia, Myoclonic, Type 11

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

Hld

Leukodystrophy, Hypomyelinating

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Cleft, Orofacial

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome