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Disease	Synonyms	Description
brachycephaly, trichomegaly, and developmental delay	BTDD; Macinnes syndrome; MCINS;	A syndrome characterized by brachycephaly, trichom..[+] A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. [-]
brachydactyly		A dysostosis characterized by short fingers and to..[+] A dysostosis characterized by short fingers and toes. [-]
brachydactyly type A1	BDA1; Farabee type brachydactyly;	A brachydactyly characterized by rudimentary or fu..[+] A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. [-]
brachydactyly type A1B	BDA1B;	A brachydactyly type A1 characterized by shortened..[+] A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. [-]
brachydactyly type A1C	BDA1C;	A brachydactyly type A1 has_material_basis_in homo..[+] A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. [-]
brachydactyly type A1D	BDA1D;	A brachydactyly type A1 that has_material_basis_in..[+] A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. [-]
brachydactyly type A2	BDA2; brachymesophalangy II; Mohr-Wriedt type brac.. [+] BDA2; brachymesophalangy II; Mohr-Wriedt type brachydactyly; [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. [-]
brachydactyly type A3	BDA3; brachydactyly-clinodactyly; brachymesophalan.. [+] BDA3; brachydactyly-clinodactyly; brachymesophalangy V; [-]	A brachydactyly characterized by shortening of the..[+] A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. [-]
brachydactyly type A4	BDA4; brachymesophalangy II and V; Temtamy type br.. [+] BDA4; brachymesophalangy II and V; Temtamy type brachydactyly; [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. [-]
brachydactyly type A6	BDA6; brachymesophalangy with mesomelic short limb.. [+] BDA6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; Osebold-Remondini syndrome; [-]	A brachydactyly characterized by brachymesophalang..[+] A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. [-]
brachydactyly type B1	BDB1;	A brachydactyly characterized by short middle phal..[+] A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. [-]
brachydactyly type B2	BDB2;	A brachydactyly characterized by hypoplasia/aplasi..[+] A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. [-]
brachydactyly type C	BDC;	A brachydactyly characterized by rachymesophalangy..[+] A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. [-]
brachydactyly type D	BDD;	A brachydactyly characterized by short and broad t..[+] A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. [-]
brachydactyly type E1	BDE1;	A brachydactyly characterized by shortening of the..[+] A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. [-]
brachydactyly type E2	BDE2;	A characterized byautosomal dominant inheritance o..[+] A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. [-]
brachydactyly-preaxial hallux varus syndrome	Christian brachydactyly; preaxial brachydactyly wi.. [+] Christian brachydactyly; preaxial brachydactyly with hallux varus and thumb abduction; [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. [-]
brachydactyly-syndactyly syndrome		A syndrome that is characterized by brachydactyly ..[+] A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. [-]
brachyolmia	brachyrachia;	An osteochondrodysplasia characterized by generali..[+] An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. [-]
brachyolmia-amelogenesis imperfecta syndrome	DASS; dental anomalies and short stature; platyspo.. [+] DASS; dental anomalies and short stature; platyspondyly with amelogenesis imperfecta; selective tooth agenesis 5; STHAG6; [-]	An autosomal recessive disease characterized by sk..[+] An autosomal recessive disease characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13. [-]
bradyopsia	prolonged electroretinal response suppression;	A retinal disease characterized by the slower than..[+] A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. [-]
bradyopsia 2	prolonged electroretinal response suppression 2;	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. [-]
brain angioma		n_a
brain cancer	adult brain tumor; adult malignant brain neoplasm;.. [+] adult brain tumor; adult malignant brain neoplasm; brain neoplasm; brain neoplasm, adult; BT - Brain tumour; malignant brain tumour; malignant primary brain neoplasm; malignant primary brain tumor; malignant tumor of adult brain; malignant tumor of Brain; neoplasm of brain (disorder); neoplasm of unspecified nature of brain; neoplasm of unspecified nature of brain (disorder); primary brain neoplasm; primary brain tumor; primary malignant neoplasm of brain (disorder); tumor of the Brain; neoplasm of brain; primary malignant neoplasm of brain; [-]	A central nervous system cancer that is characteri..[+] A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. [-]
brain compression		n_a
brain disease	encephalopathy;	A central nervous system disease that is located_i..[+] A central nervous system disease that is located_in the brain. [-]
brain edema	intracranial swelling; wet brain;	n_a
brain ependymoma	Ependymal tumor of brain; Ependymoma of brain (dis.. [+] Ependymal tumor of brain; Ependymoma of brain (disorder); [-]	n_a
brain germinoma	germinoma of the brain; intracranial germinoma;	A brain cancer that is characterized by abnormally..[+] A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells. [-]
brain glioblastoma multiforme	brain Glioblastoma; Glioblastoma multiforme of bra.. [+] brain Glioblastoma; Glioblastoma multiforme of brain (disorder); [-]	n_a
brain glioma	lower grade glioma;	A brain cancer that has_material_basis_in glial ce..[+] A brain cancer that has_material_basis_in glial cells. [-]
brain infarction		n_a
brain ischemia	Ischaemic encephalopathy; Ischemic encephalopathy .. [+] Ischaemic encephalopathy; Ischemic encephalopathy (disorder); cerebral ischemia; Ischemic encephalopathy; [-]	An ischemia that is characterized by insufficient ..[+] An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand. [-]
brain meningioma		A brain cancer that is characterized by tumor of t..[+] A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. [-]
brain oligodendroglioma	brain Oligodendroglioma; Oligodendroglioma of brai.. [+] brain Oligodendroglioma; Oligodendroglioma of brain (disorder); [-]	A brain glioma that has_material_basis_in oligoden..[+] A brain glioma that has_material_basis_in oligodendrocytes. [-]
brain sarcoma	sarcoma of the brain;	n_a
brain small vessel disease 1	autosomal dominant retinal arteriolar tortuosity, .. [+] autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; infantile hemiparesis; leukoencephalopathy with Axenfeld-Riegar anomaly; BSVD1; COL4A1-related familial vascular leukoencephalopathy; [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
brain small vessel disease 2	BSVD2; porencephaly 2;	A brain small vessel disease characterized by dist..[+] A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. [-]
brain stem angioblastoma	Hemangioblastoma of Brainstem;	n_a
brain stem astrocytic neoplasm	Brainstem astrocytoma;	n_a
brain stem cancer	malignant neoplasm of brain stem; malignant neopla.. [+] malignant neoplasm of brain stem; malignant neoplasm of brainstem; malignant neoplasm of brainstem (disorder); malignant neoplasm of brainstem NOS (disorder); malignant tumor of Brainstem; neoplasm of adult brain stem; neoplasm of brain stem (disorder); primary brain stem neoplasm; primary brain Stem tumor; tumor of adult Brainstem; tumor of the Brainstem; [-]	n_a
brain stem ependymoma	Ependymoma of the Brainstem;	n_a
brain stem glioma	Brainstem Neuroglial tumor;	n_a
brain stem infarction	brain stem infarction (disorder); Brainstem infarc.. [+] brain stem infarction (disorder); Brainstem infarction; Brainstem infarction NOS; Brainstem infarction NOS (disorder); [-]	n_a
brain stem medulloblastoma		A brain stem cancer that begins in the lower part ..[+] A brain stem cancer that begins in the lower part of the brain on the floor of the skull. [-]
brainstem intraparenchymal clear cell meningioma	Intraparenchymal Clear cell meningioma of the Brai.. [+] Intraparenchymal Clear cell meningioma of the Brainstem; [-]	n_a
branch retinal artery occlusion	Arterial retinal branch occlusion (disorder); Reti.. [+] Arterial retinal branch occlusion (disorder); Retinal Arterial Branch Occlusion; Retinal arterial branch occlusion; [-]	n_a
branched-chain keto acid dehydrogenase kinase deficiency	autism-epilepsy syndrome due to branched chain ket.. [+] autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; BCKDK deficiency; BCKDKD; [-]	An autosomal recessive disease characterized by au..[+] An autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the BCKDK gene on chromosome 16p11. [-]
branchiooculofacial syndrome		An autosomal dominant disease that is characterize..[+] An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. [-]
branchiootic syndrome	BO syndrome; BOR; branchiootic dysplasia;	A syndrome characterized by malformations of the o..[+] A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. [-]

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