Pharos : Disease Details - Mendelian disease

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Disease Summary

Associated Targets (13361)

Tbio

8932

Tdark

2157

Tchem

1652

Tclin

620

Explore Associated Targets

Mondo Description

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.

Disease Ontology Description

A disease that has_material_basis_in genetic variations in the human genome.

Mondo Term and Equivalent IDs

MONDO:0003847: Mendelian disease

DOID:630: genetic disease

EFO:0000508:

MESH:D030342:

NCIT:C3101:

SCTID:32895009:

UMLS:C0019247:

GWAS Targets (0)

No GWAS traits found

Disease Hierarchy

Parents

disease or disorder (0)

Children

genetic skin disease (7587)

Tbio

5032

Tdark

1219

Tchem

988

Tclin

348

genetic nervous system disorder (6096)

Tbio

4331

Tchem

803

Tdark

604

Tclin

358

inflammatory bowel disease (3576)

Tbio

2423

Tchem

549

Tdark

414

Tclin

190

autosomal genetic disease (3052)

Tbio

2199

Tchem

436

Tdark

248

Tclin

169

inborn errors of metabolism (2071)

Tbio

1410

Tchem

373

Tclin

191

Tdark

97

hereditary connective tissue disorder (1605)

Tbio

1151

Tchem

254

Tclin

131

Tdark

69

familial cardiomyopathy (1048)

Tbio

753

Tchem

174

Tclin

67

Tdark

54

genetic otorhinolaryngologic disease (927)

Tbio

645

Tchem

113

Tdark

111

Tclin

58

chromosomal anomaly (819)

Tbio

609

Tchem

129

Tclin

45

Tdark

36

genetic multiple congenital anomalies/dysmorphic syndrome (671)

Tbio

514

Tchem

92

Tclin

40

Tdark

25

sex-linked disease (534)

Tbio

384

Tchem

76

Tclin

37

Tdark

37

hereditary nephritis (520)

Tbio

363

Tchem

107

Tclin

27

Tdark

23

MALT lymphoma (486)

Tbio

325

Tchem

89

Tdark

47

Tclin

25

inherited auditory system disease (439)

Tbio

310

Tchem

64

Tclin

34

Tdark

31

abdominal obesity-metabolic syndrome (417)

Tbio

278

Tchem

63

Tdark

56

Tclin

20

Hashimoto thyroiditis (409)

Tbio

291

Tchem

49

Tdark

41

Tclin

28

immune deficiency disease (407)

Tbio

269

Tchem

74

Tclin

51

Tdark

13

hereditary neoplastic syndrome (407)

Tbio

277

Tchem

73

Tclin

46

Tdark

11

inherited digestive tract tumor (407)

Tbio

226

Tchem

126

Tclin

49

Tdark

6

polycystic ovary syndrome (335)

Tbio

224

Tchem

53

Tdark

32

Tclin

26

genetic systemic or rheumatologic disease (325)

Tbio

232

Tchem

64

Tclin

21

Tdark

8

Tbio

255

Tchem

41

Tdark

21

Tclin

6

genetic infertility (293)

Tbio

212

Tchem

35

Tclin

31

Tdark

15

immunodeficiency disease (285)

Tbio

191

Tchem

50

Tclin

32

Tdark

12

genetic biliary tract disease (235)

Tbio

154

Tchem

41

Tclin

24

Tdark

16

cirrhosis, familial (206)

Tbio

135

Tchem

37

Tclin

18

Tdark

16

celiac disease (194)

Tbio

130

Tchem

29

Tdark

27

Tclin

8

anomaly of puberty or/and menstrual cycle of genetic origin (181)

Tbio

136

Tclin

23

Tchem

17

Tdark

5

hypogonadotropic hypogonadism (167)

Tbio

124

Tclin

21

Tchem

18

Tdark

4

inherited soft tissue tumor (155)

Tbio

90

Tchem

33

Tdark

19

Tclin

13

gallbladder disease (153)

Tbio

85

Tdark

29

Tchem

21

Tclin

18

gastroesophageal reflux disease (150)

Tbio

104

Tdark

17

Tchem

16

Tclin

13

ciliopathy (146)

Tbio

127

Tdark

15

Tchem

3

Tclin

1

orofacial cleft (123)

Tbio

82

Tchem

16

Tdark

15

Tclin

10

genetic hypertension (122)

Tbio

78

Tclin

20

Tchem

19

Tdark

5

monogenic obesity (109)

Tbio

84

Tchem

14

Tclin

9

Tdark

2

inherited blood coagulation disorder (105)

Tbio

58

Tclin

23

Tchem

22

Tdark

2

inherited neuroendocrine tumor (104)

Tbio

54

Tchem

24

Tclin

22

Tdark

4

inherited renal tubular disease (103)

Tbio

72

Tchem

16

Tclin

12

Tdark

3

genetic cardiac rhythm disease (99)

Tbio

68

Tclin

18

Tchem

12

Tdark

1

genetic vascular anomaly (94)

Tbio

43

Tclin

27

Tchem

23

Tdark

1

familial hemolytic anemia (87)

Tbio

58

Tchem

16

Tclin

13

familial cystic renal disease (75)

Tbio

59

Tchem

9

Tclin

4

Tdark

3

inherited thrombocytopenia (75)

Tbio

50

Tchem

14

Tclin

8

Tdark

3

Tbio

54

Tclin

9

Tchem

6

Tdark

4

Burkitt lymphoma (67)

Tbio

39

Tclin

17

Tchem

10

Tdark

1

inherited aplastic anemia (66)

Tbio

49

Tchem

9

Tclin

5

Tdark

3

congenital anomaly of kidney and urinary tract (65)

Tbio

51

Tchem

8

Tclin

5

Tdark

1

keratoconus (59)

Tbio

45

Tchem

11

Tclin

2

Tdark

1

inherited hemoglobinopathy (55)

Tbio

39

Tclin

9

Tchem

5

Tdark

2

hereditary breast carcinoma (47)

Tbio

33

Tchem

12

Tclin

2

amelogenesis imperfecta (46)

Tbio

37

Tchem

6

Tclin

3

bronchiectasis (45)

Tbio

29

Tclin

13

Tdark

2

Tchem

1

microphthalmia (45)

Tbio

36

Tchem

7

Tclin

2

hypospadias (44)

Tbio

35

Tclin

5

Tchem

2

Tdark

2

inherited bleeding disorder, platelet-type (43)

Tbio

20

Tchem

13

Tclin

6

Tdark

4

hereditary glaucoma (42)

Tbio

31

Tchem

7

Tclin

2

Tdark

2

genetic hypoparathyroidism (38)

Tbio

32

Tclin

3

Tchem

2

Tdark

1

hypotrichosis (34)

Tbio

28

Tchem

6

tooth agenesis (34)

Tbio

27

Tdark

3

Tclin

2

Tchem

2

mastocytosis (34)

Tchem

18

Tclin

8

Tbio

8

atrioventricular dissociation (34)

Tchem

27

Tclin

4

Tbio

3

visceral heterotaxy (33)

Tbio

30

Tdark

2

Tchem

1

laminopathy (31)

Tbio

22

Tchem

5

Tclin

4

familial prostate carcinoma (30)

Tbio

22

Tchem

5

Tclin

3

focal segmental glomerulosclerosis (29)

Tbio

22

Tchem

6

Tclin

1

visceral leishmaniasis (27)

Tbio

20

Tclin

4

Tchem

3

inherited deficiency anemia (26)

Tbio

17

Tchem

6

Tclin

2

Tdark

1

genetic intestinal polyposis (26)

Tbio

16

Tchem

7

Tclin

3

Ewing sarcoma (25)

Tbio

19

Tchem

4

Tclin

1

Tdark

1

tetralogy of fallot (24)

Tbio

18

Tclin

3

Tchem

3

familial nonmedullary thyroid carcinoma (24)

Tbio

17

Tchem

4

Tclin

3

serpinopathy (24)

Tbio

18

Tchem

5

Tclin

1

Hirschsprung disease (23)

Tbio

20

Tclin

2

Tchem

1

enterocolitis (21)

Tbio

10

Tchem

8

Tclin

3

arthrogryposis multiplex congenita (21)

Tbio

18

Tchem

2

Tclin

1

familial nephrotic syndrome (20)

Tbio

17

Tchem

3

multiple endocrine neoplasia (20)

Tbio

13

Tclin

4

Tchem

3

intervertebral disc degenerative disorder (19)

Tbio

12

Tchem

5

Tclin

2

centronuclear myopathy (18)

Tbio

14

Tchem

3

Tclin

1

familial polycythemia (17)

Tclin

8

Tbio

6

Tchem

3

familial ovarian cancer (17)

Tbio

12

Tchem

5

distal arthrogryposis (17)

Tbio

14

Tchem

2

Tclin

1

ventricular septal defect (16)

Tbio

13

Tclin

1

Tchem

1

Tdark

1

tubular aggregate myopathy (16)

Tbio

13

Tchem

2

Tclin

1

primary hyperoxaluria (15)

Tbio

8

Tchem

4

Tclin

3

hereditary Wilms tumor (15)

Tbio

11

Tchem

3

Tclin

1

inherited susceptibility to asthma (15)

Tbio

7

Tclin

4

Tchem

4

cryptorchidism (13)

Tbio

6

Tchem

4

Tclin

3

anterior segment dysgenesis (13)

Tbio

10

Tchem

3

familial thoracic aortic aneurysm and aortic dissection (13)

Tbio

7

Tchem

6

Tbio

9

Tclin

2

Tchem

2

genetic parenchymatous liver disease (12)

Tbio

10

Tchem

2

inherited sideroblastic anemia (12)

Tbio

11

Tchem

1

familial pancreatic carcinoma (11)

Tbio

6

Tchem

4

Tclin

1

lethal congenital contracture syndrome (11)

Tbio

6

Tchem

4

Tclin

1

nemaline myopathy (11)

Tbio

11

congenital diarrhea (10)

Tbio

6

Tclin

3

Tdark

1

Fuchs' endothelial dystrophy (10)

Tbio

7

Tdark

2

Tclin

1

islet cell adenomatosis (10)

Tbio

5

Tchem

3

Tclin

2

renal agenesis (10)

Tbio

6

Tchem

2

Tclin

1

Tdark

1

hyperinsulinemic hypoglycaemia (10)

Tbio

4

Tclin

3

Tchem

3

hereditary renal cell carcinoma (9)

Tbio

5

Tchem

3

Tclin

1

atrial septal defect (9)

Tbio

8

Tchem

1

myofibrillar myopathy (9)

Tbio

7

Tclin

1

Tchem

1

reticulate pigment disorder (8)

Tbio

4

Tchem

3

Tdark

1

genetic hyperparathyroidism (8)

Tbio

5

Tchem

2

Tclin

1

Tbio

4

Tchem

2

Tclin

1

hypothyroidism, congenital, nongoitrous (6)

Tbio

3

Tclin

2

Tchem

1

familial glucocorticoid deficiency (6)

Tbio

4

Tclin

1

Tchem

1

graft versus host disease (6)

Tclin

3

Tbio

3

familial hyperaldosteronism (6)

Tclin

4

Tchem

2

inherited pseudoxanthoma elasticum (6)

Tbio

3

Tchem

2

Tclin

1

febrile seizures, familial (5)

Tclin

3

Tbio

2

short QT syndrome (5)

Tclin

4

Tchem

1

Klippel-Feil syndrome (5)

Tbio

4

Tdark

1

FG syndrome (5)

Tbio

4

Tchem

1

hypoplastic left heart syndrome (5)

Tdark

3

Tbio

2

isolated aniridia (5)

Tbio

5

coumarin resistance (5)

Tchem

4

Tclin

1

hyperreflexia (5)

Tclin

2

Tbio

2

Tchem

1

atrioventricular septal defect (5)

Tbio

4

Tchem

1

posterior polymorphous corneal dystrophy (5)

Tbio

5

carcinoid syndrome (5)

Tclin

5

bone marrow failure syndrome (4)

Tbio

3

Tdark

1

familial juvenile hyperuricemic nephropathy (4)

Tbio

2

Tclin

1

Tchem

1

dentin dysplasia type I (4)

Tbio

3

Tchem

1

gelatinous drop-like corneal dystrophy (4)

Tbio

3

Tclin

1

Tbio

4

renal tubular dysgenesis of genetic origin (4)

Tclin

3

Tbio

1

embryonal rhabdomyosarcoma (4)

Tbio

3

Tclin

1

histiocytoma, Angiomatoid fibrous (4)

Tbio

3

Tchem

1

primary pigmented nodular adrenocortical disease (4)

Tchem

2

Tclin

1

Tbio

1

megacystis-microcolon-intestinal hypoperistalsis syndrome (4)

Tbio

3

Tchem

1

COACH syndrome (4)

Tbio

4

pulmonary fibrosis and/or bone marrow failure, telomere-related (3)

Tbio

2

Tchem

1

epithelial-stromal TGFBI dystrophy (3)

Tbio

3

ear malformation (3)

Tbio

3

hyperglycinuria (3)

Tchem

2

Tbio

1

hematuria, benign familial (3)

Tbio

3

Raynaud disease (3)

Tbio

3

pleomorphic adenoma (3)

Tbio

3

protein-losing enteropathy (3)

Tbio

2

Tchem

1

heart, malformation of (3)

Tbio

2

Tchem

1

neonatal acute respiratory distress due to SP-B deficiency (3)

Tbio

2

Tclin

1

COPD, severe early onset (3)

Tchem

2

Tbio

1

ovarian hyperstimulation syndrome (3)

Tbio

2

Tclin

1

hearing loss, cisplatin-induced, susceptibility to (3)

Tclin

1

Tchem

1

Tbio

1

familial vesicoureteral reflux (3)

Tbio

3

central precocious puberty (3)

Tchem

2

Tbio

1

dextro-looped transposition of the great arteries (3)

Tbio

3

SELENON-related myopathy (3)

Tbio

3

anemia, hypochromic microcytic with iron overload (2)

Tchem

1

Tbio

1

Chiari malformation (2)

Tbio

2

polyglucosan body myopathy (2)

Tbio

2

autoimmune disease, multisystem, infantile-onset (2)

Tchem

2

preimplantation embryonic lethality (2)

Tbio

2

ariboflavinosis (2)

Tbio

2

hydatidiform mole (2)

Tbio

2

Meesmann corneal dystrophy (2)

Tbio

2

otofaciocervical syndrome (2)

Tbio

2

Peyronie disease (2)

Tchem

1

Tbio

1

familial male-limited precocious puberty (2)

Tclin

1

Tbio

1

congenital ptosis (2)

Tbio

2

tibia, hypoplasia or aplasia of, with polydactyly (2)

Tchem

1

Tbio

1

asthma, nasal polyps, and aspirin intolerance (2)

Tclin

1

Tbio

1

Behr syndrome (2)

Tchem

1

Tbio

1

central areolar choroidal dystrophy (2)

Tbio

2

Hallermann-Streiff syndrome (2)

Tbio

2

megaepiphyseal dwarfism (2)

Tbio

2

neuropathy, painful (2)

Tchem

1

Tbio

1

pancreatic agenesis (2)

Tbio

2

periodontitis, chronic, adult (2)

Tclin

1

Tchem

1

de Sanctis-Cacchione syndrome (2)

Tbio

2

cardiomyopathy, infantile hypertrophic (2)

Tbio

2

Helicobacter pylori infection, susceptibility to (2)

Tchem

1

Tbio

1

alveolar soft part sarcoma (2)

Tbio

2

short stature-delayed bone age due to thyroid hormone metabolism deficiency (2)

Tbio

2

preterm premature rupture of the membranes (2)

Tchem

1

Tbio

1

myostatin-related muscle hypertrophy (2)

Tclin

1

Tdark

1

intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency (2)

Tclin

1

Tdark

1

hereditary gingival fibromatosis (2)

Tchem

1

Tbio

1

arterial calcification of infancy (2)

Tchem

1

Tbio

1

congenital short bowel syndrome 1 (2)

Tbio

2

collagenopathy type 2 alpha 1 (2)

Tbio

2

foveal hypoplasia (2)

Tbio

2

multinodular goiter (1)

Tbio

1

cornea plana (1)

Tbio

1

prune belly syndrome (1)

Tclin

1

ankyloglossia (1)

Tbio

1

Schnyder corneal dystrophy (1)

Tbio

1

fleck corneal dystrophy (1)

Tchem

1

epithelial recurrent erosion dystrophy (1)

Tbio

1

creatine phosphokinase, elevated serum (1)

Tbio

1

primary failure of tooth eruption (1)

Tclin

1

dentin dysplasia type II (1)

Tbio

1

dentinogenesis imperfecta type 2 (1)

Tbio

1

dentinogenesis imperfecta type 3 (1)

Tbio

1

ectopia lentis 1, isolated, autosomal dominant (1)

Tbio

1

epidermolysis bullosa with congenital localized absence of skin and deformity of nails (1)

Tbio

1

intellectual disability, FRA12A type (1)

Tdark

1

fibronectin glomerulopathy (1)

Tchem

1

hepatic adenomas, familial (1)

Tbio

1

hyperthyroxinemia, dystransthyretinemic (1)

Tclin

1

hypophosphatemic bone disease (1)

Tbio

1

indifference to pain, congenital, autosomal dominant (1)

Tdark

1

keratitis fugax hereditaria (1)

Tchem

1

tooth ankylosis (1)

Tclin

1

mullerian aplasia and hyperandrogenism (1)

Tbio

1

hereditary neutrophilia (1)

Tclin

1

isolated optic nerve hypoplasia (1)

Tbio

1

periodontitis, aggressive 1 (1)

Tchem

1

pernicious anemia (1)

Tbio

1

familial spontaneous pneumothorax (1)

Tbio

1

premature chromatid separation trait (1)

Tbio

1

pulmonary edema of mountaineers, susceptibility to (1)

Tclin

1

ring dermoid of cornea (1)

Tbio

1

Robinow-Sorauf syndrome (1)

Tbio

1

aplasia of lacrimal and salivary glands (1)

Tbio

1

trichomegaly (1)

Tbio

1

congenital vertical talus (1)

Tbio

1

Wolff-Parkinson-white syndrome (1)

Tchem

1

zinc, elevated plasma (1)

Tbio

1

hereditary arterial and articular multiple calcification syndrome (1)

Tchem

1

carboxypeptidase N deficiency (1)

Tchem

1

cardiac valvular defect, developmental (1)

Tchem

1

dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (1)

Tbio

1

colobomatous optic disc-macular atrophy-chorioretinopathy syndrome (1)

Tbio

1

coloboma, ocular, autosomal recessive (1)

Tbio

1

Jalili syndrome (1)

Tbio

1

congenital hereditary endothelial dystrophy of cornea (1)

Tbio

1

ectopia lentis 2, isolated, autosomal recessive (1)

Tbio

1

ectopia lentis et pupillae (1)

Tbio

1

congenital enteropathy due to enteropeptidase deficiency (1)

Tchem

1

immunodeficiency 32B (1)

Tbio

1

galactorrhea (1)

Tbio

1

hyperlysinuria with hyperammonemia (1)

Tbio

1

hypoglycemia, leucine-induced (1)

Tclin

1

hypoinsulinemic hypoglycemia and body hemihypertrophy (1)

Tchem

1

metabolic myopathy due to lactate transporter defect (1)

Tchem

1

megalocornea (1)

Tbio

1

microcephaly-micromelia syndrome (1)

Tbio

1

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (1)

Tbio

1

myopathy with abnormal lipid metabolism (1)

Tbio

1

progesterone resistance (1)

Tclin

1

pulmonary alveolar microlithiasis (1)

Tchem

1

pyloric atresia (1)

Tbio

1

pyropoikilocytosis, hereditary (1)

Tbio

1

growth delay due to insulin-like growth factor I resistance (1)

Tclin

1

tardive dyskinesia (1)

Tclin

1

isolated thyrotropin-releasing hormone deficiency (1)

Tbio

1

isolated right ventricular hypoplasia (1)

Tbio

1

intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (1)

Tbio

1

Uruguay Faciocardiomusculoskeletal syndrome (1)

Tbio

1

Tn polyagglutination syndrome (1)

Tbio

1

myopathy, reducing body, X-linked, early-onset, severe (1)

Tbio

1

myopathy, reducing body, X-linked, childhood-onset (1)

Tbio

1

Meester-Loeys syndrome (1)

Tbio

1

Tchem

1

proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis (1)

Tbio

1

nephrolithiasis, X-linked recessive, with renal failure (1)

Tbio

1

cardiac valvular dysplasia, X-linked (1)

Tbio

1

macrocytosis, familial (1)

Tbio

1

gonadal agenesis (1)

Tbio

1

cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies (1)

Tbio

1

pleuropulmonary blastoma (1)

Tbio

1

brachyolmia-amelogenesis imperfecta syndrome (1)

Tbio

1

renal dysplasia, cystic, susceptibility to (1)

Tbio

1

facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome (1)

Tbio

1

acroosteolysis-keloid-like lesions-premature aging syndrome (1)

Tclin

1

arhinia, choanal atresia, and microphthalmia (1)

Tbio

1

prostate cancer/brain cancer susceptibility (1)

Tchem

1

deafness, nonsyndromic, modifier 1 (1)

Tbio

1

myopathy, proximal, and ophthalmoplegia (1)

Tbio

1

persistent polyclonal B-cell lymphocytosis (1)

Tbio

1

vitiligo-associated multiple autoimmune disease susceptibility 1 (1)

Tbio

1

partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (1)

Tbio

1

hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (1)

Tbio

1

thyroid Hurthle cell carcinoma (1)

Tclin

1

Camptosynpolydactyly, complex (1)

Tbio

1

nonimmune chronic idiopathic neutropenia of adults (1)

Tbio

1

zinc deficiency, transient neonatal (1)

Tbio

1

parathyroid gland carcinoma (1)

Tbio

1

coronary artery disease, autosomal dominant, 1 (1)

Tbio

1

growth delay due to insulin-like growth factor type 1 deficiency (1)

Tbio

1

sudden infant death-dysgenesis of the testes syndrome (1)

Tbio

1

Meacham syndrome (1)

Tbio

1

congenital stromal corneal dystrophy (1)

Tbio

1

diaphragmatic hernia 3 (1)

Tbio

1

testicular microlithiasis (1)

Tchem

1

corticosterone methyloxidase type 2 deficiency (1)

Tchem

1

coronary artery disease, autosomal dominant 2 (1)

Tbio

1

XFE progeroid syndrome (1)

Tbio

1

craniofacial dysplasia - osteopenia syndrome (1)

Tbio

1

Mungan syndrome (1)

Tbio

1

corticosteroid-binding globulin deficiency (1)

Tchem

1

familial cavitary optic disc anomaly (1)

Tbio

1

Krabbe disease, atypical, due to saposin A deficiency (1)

Tbio

1

Pseudofolliculitis barbae (1)

Tbio

1

skeletal defects, genital hypoplasia, and intellectual disability (1)

Tbio

1

Compton-North congenital myopathy (1)

Tbio

1

Hirschsprung disease-ganglioneuroblastoma syndrome (1)

Tbio

1

follicular lymphoma, susceptibility to, 1 (1)

Tbio

1

bile acid malabsorption, primary (1)

Tclin

1

Birbeck granule deficiency (1)

Tbio

1

cocoon syndrome (1)

Tchem

1

intellectual disability, anterior maxillary protrusion, and strabismus (1)

Tbio

1

inosine triphosphatase deficiency (1)

Tbio

1

Hirschsprung disease, cardiac defects, and autonomic dysfunction (1)

Tchem

1

obesity, hyperphagia, and developmental delay (1)

Tclin

1

acetyl-coa carboxylase deficiency (1)

Tchem

1

Okt4 epitope deficiency (1)

Tclin

1

cyanosis, transient neonatal (1)

Tbio

1

alpha-2-macroglobulin deficiency (1)

Tbio

1

trypsinogen deficiency (1)

Tclin

1

acetyl-CoA acetyltransferase-2 deficiency (1)

Tchem

1

N-acetylaspartate deficiency (1)

Tbio

1

anhaptoglobinemia (1)

Tbio

1

hyperbiliverdinemia (1)

Tbio

1

overgrowth-macrocephaly-facial dysmorphism syndrome (1)

Tbio

1

craniofacial anomalies and anterior segment dysgenesis syndrome (1)

Tbio

1

arthrogryposis, Perthes disease, and upward gaze palsy (1)

Tchem

1

platelet-activating factor acetylhydrolase deficiency (1)

Tchem

1

cognitive impairment with or without cerebellar ataxia (1)

Tclin

1

MEGF10-Related Myopathy (1)

Tbio

1

psychomotor retardation, epilepsy, and craniofacial dysmorphism (1)

Tbio

1

efavirenz, poor metabolism of (1)

Tchem

1

short stature-optic atrophy-Pelger-HuC+t anomaly syndrome (1)

Tbio

1

congenital heart defects, multiple types, 2 (1)

Tbio

1

phosphohydroxylysinuria (1)

Tdark

1

multiple fibroadenoma of the breast (1)

Tbio

1

complement factor b deficiency (1)

Tchem

1

L-ferritin deficiency (1)

Tbio

1

short stature with microcephaly and distinctive facies (1)

Tbio

1

Webb-Dattani syndrome (1)

Tbio

1

kallikrein, decreased urinary activity of (1)

Tchem

1

short stature due to primary acid-labile subunit deficiency (1)

Tbio

1

hyperthyroxinemia, familial dysalbuminemic (1)

Tchem

1

congenital analbuminemia (1)

Tchem

1

hyperproinsulinemia (1)

Tbio

1

short stature with nonspecific skeletal abnormalities (1)

Tbio

1

Tenorio syndrome (1)

Tbio

1

congenital contractures of the limbs and face, hypotonia, and developmental delay (1)

Tchem

1

epidermolysis bullosa simplex with nail dystrophy (1)

Tbio

1

leukodystrophy and acquired microcephaly with or without dystonia; (1)

Tbio

1

Lamb-Shaffer syndrome (1)

Tbio

1

severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome (1)

Tdark

1

Luscan-Lumish syndrome (1)

Tchem

1

exercise intolerance, riboflavin-responsive (1)

Tbio

1

cerebellar atrophy, visual impairment, and psychomotor retardation; (1)

Tbio

1

heart and brain malformation syndrome (1)

Tbio

1

dyskinesia, limb and orofacial, infantile-onset (1)

Tclin

1

chorea, childhood-onset, with psychomotor retardation (1)

Tchem

1

retinitis pigmentosa and erythrocytic microcytosis (1)

Tbio

1

neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (1)

Tbio

1

macrocephaly, dysmorphic facies, and psychomotor retardation (1)

Tbio

1

MIRAGE syndrome (1)

Tbio

1

Okur-Chung neurodevelopmental syndrome (1)

Tchem

1

portal hypertension, noncirrhotic (1)

Tbio

1

Dias-Logan syndrome (1)

Tbio

1

Alazami-Yuan syndrome (1)

Tbio

1

neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (1)

Tbio

1

Sifrim-Hitz-Weiss syndrome (1)

Tchem

1

short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (1)

Tbio

1

Chitayat syndrome (1)

Tbio

1

language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (1)

Tbio

1

Harel-Yoon syndrome (1)

Tbio

1

Shashi-Pena syndrome (1)

Tbio

1

encephalopathy, progressive, with amyotrophy and optic atrophy (1)

Tbio

1

sudden cardiac failure, infantile (1)

Tbio

1

sudden cardiac failure, alcohol-induced (1)

Tbio

1

myoclonus, intractable, neonatal (1)

Tbio

1

cone-rod dystrophy and hearing loss (1)

Tbio

1

lung disease, immunodeficiency, and chromosome breakage syndrome; (1)

Tbio

1

global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (1)

Tbio

1

neurodevelopmental disorder with hypotonia, seizures, and absent language (1)

Tbio

1

hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to (1)

Tchem

1

coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (1)

Tchem

1

susceptibility to Yao syndrome (1)

Tclin

1

hypotonia, ataxia, and delayed development syndrome (1)

Tbio

1

intellectual developmental disorder with dysmorphic facies and ptosis (1)

Tchem

1

FRAXF syndrome (1)

Tdark

1

isolated congenital breast hypoplasia/aplasia (1)

Tchem

1

inherited cardiac tumor (1)

Tbio

1

hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome (1)

Tbio

1

LMNA-related cardiocutaneous progeria syndrome (1)

Tbio

1

biological anomaly without phenotypic characterization (1)

Tbio

1

familial parathyroid adenoma (1)

Tbio

1

contractures, pterygia, and variable skeletal fusions syndrome (1)

Tbio

1

carcinoid tumors, intestina (1)

Tbio

1

harderoporphyria (1)

Tbio

1

short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (1)

Tbio

1

diencephalic-mesencephalic junction dysplasia syndrome (1)

Tbio

1

inherited mitral valve disease (1)

Tbio

1

congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (1)

Tchem

1

congenital heart defects and ectodermal dysplasia (1)

Tchem

1

brachycephaly, trichomegaly, and developmental delay (1)

Tbio

1

immunoskeletal dysplasia with neurodevelopmental abnormalities (1)

Tbio

1

thrombocytopenia, anemia, and myelofibrosis (1)

Tbio

1

structural heart defects and renal anomalies syndrome (1)

Tdark

1

autoinflammation with arthritis and dyskeratosis (1)

Tbio

1

neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (1)

Tchem

1

neurodevelopmental disorder with involuntary movements (1)

Tbio

1

neurodevelopmental disorder with hypotonia, neuropathy, and deafness (1)

Tbio

1

retinal dystrophy with or without macular staphyloma (1)

Tbio

1

Cohen-Gibson syndrome (1)

Tchem

1

maleylacetoacetate isomerase deficiency (1)

Tbio

1

congenital heart defects and skeletal malformations syndrome (1)

Tclin

1

microcephaly, short stature, and limb abnormalities (1)

Tbio

1

congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (1)

Tbio

1

encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (1)

Tbio

1

neurodevelopmental disorder with microcephaly, ataxia, and seizures (1)

Tbio

1

neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (1)

Tbio

1

platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (1)

Tbio

1

facial palsy, congenital, with ptosis and velopharyngeal dysfunction (1)

Tclin

1

immunodeficiency, developmental delay, and hypohomocysteinemia (1)

Tchem

1

Sweeney-Cox syndrome (1)

Tbio

1

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (1)

Tchem

1

combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (1)

Tchem

1

neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (1)

Tchem

1

neurodevelopmental disorder with severe motor impairment and absent language (1)

Tchem

1

neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (1)

Tbio

1

neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (1)

Tclin

1

Alkuraya-Kucinskas syndrome (1)

Tbio

1

neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (1)

Tbio

1

neurodevelopmental disorder with or without seizures and gait abnormalities (1)

Tclin

1

neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (1)

Tbio

1

neurodevelopmental disorder with poor language and loss of hand skills (1)

Tclin

1

Diamond-Blackfan anemia-like (1)

Tbio

1

congenital heart defects, multiple types, 5 (1)

Tbio

1

neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (1)

Tbio

1

hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (1)

Tbio

1

neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (1)

Tbio

1

Ververi-Brady syndrome (1)

Tdark

1

Jaberi-Elahi syndrome (1)

Tbio

1

developmental delay, intellectual disability, obesity, and dysmorphic features (1)

Tbio

1

deafness, congenital heart defects, and posterior embryotoxon (1)

Tbio

1

humerofemoral hypoplasia with radiotibial ray deficiency (1)

Tbio

1

intellectual developmental disorder with or without epilepsy or cerebellar ataxia (1)

Tchem

1

GATA1-Related X-Linked Cytopenia (1)

Tbio

1

RYR1-related myopathy (1)

Tclin

1

growth hormone insensitivity syndrome with immune dysregulation (1)

Tchem

1

IFAP syndrome (1)

Tbio

1

microcephaly, epilepsy, and diabetes syndrome (1)

Tbio

1

SEC61A1 deficiency (1)

Tbio

1

camptodactyly syndrome, Guadalajara (0)

cerebelloparenchymal disorder (0)

hereditary kidney oncocytoma (0)

hereditary fallopian tube carcinoma (0)

fibromuscular dysplasia (0)

familial abdominal aortic aneurysm (0)

Achard syndrome (0)

Achoo syndrome (0)

acroleukopathy, symmetric (0)

acromegaloid changes, cutis verticis gyrata, and corneal leukoma (0)

acromial dimples (0)

acylase, cobalt-activated (0)

adenosine triphosphatase deficiency, anemia due to (0)

amastia, bilateral, with ureteral triplication and dysmorphism (0)

amelia and terminal transverse hemimelia (0)

amenorrhea-galactorrhea syndrome (0)

amyotrophic dystonic paraplegia (0)

anal sphincter dysplasia (0)

anal sphincter myopathy, internal (0)

aniridia, microcornea, and spontaneously Reabsorbed cataract (0)

annular erythema (0)

anonychia-ectrodactyly (0)

anonychia-onychodystrophy with brachydactyly type b and ectrodactyly (0)

Antipyrine metabolism (0)

antiviral state repressor, regulator of (0)

aortic arch interruption, facial palsy, and retinal coloboma (0)

arcus senilis (0)

arms, malformation of (0)

arteries, anomalies of (0)

arteritis, familial granulomatous, with juvenile polyarthritis (0)

arthritis, sacroiliac (0)

asymmetric short stature syndrome (0)

PR interval, variation 1N (0)

aurocephalosyndactyly (0)

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities (0)

azotemia, familial (0)

beta-amino acids, renal transport of (0)

bladder diverticulum (0)

blepharochalasis, superior (0)

bone pain, periodic (0)

Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay (0)

brachymesomelia-renal syndrome (0)

Brachymetatarsus 4 (0)

branchial myoclonus with spastic paraparesis and cerebellar ataxia (0)

familial juvenile hypertrophy of the breast (0)

bundle branch block, familial isolated complete right (0)

butyrylesterase 1 (0)

calcific aortic disease with immunologic abnormalities, familial (0)

cancer, familial, with in vitro Radioresistance (0)

canine teeth, absence of upper permanent (0)

Car factor deficiency (0)

Carabelli anomaly of maxillary molar teeth (0)

carpal displacement (0)

celiac artery stenosis from compression by median arcuate ligament of diaphragm (0)

cervical hypertrichosis with underlying kyphoscoliosis (0)

cervical vertebral Bridge (0)

cervical vertebral dysplasia (0)

chemodectoma, intraabdominal, with cutaneous angiolipomas (0)

chlorpropamide-alcohol flushing (0)

Chondronectin (0)

choroidal osteoma, bilateral (0)

colonic varices without portal hypertension (0)

comedones, familial Dyskeratotic (0)

commissural lip pits (0)

coracoclavicular joint, anomalous (0)

cornea guttata with anterior polar cataracts (0)

corneal degeneration, ribbonlike, with deafness (0)

cranioacrofacial syndrome (0)

cryofibrinogenemia, familial primary (0)

cryptotia, familial (0)

Darwinian tubercle of pinna (0)

deafness, mid-tone neural (0)

deafness, sensorineural, with peripheral neuropathy and arterial disease (0)

deafness, unilateral (0)

deafness with anhidrotic ectodermal dysplasia (0)

dens evaginatus (0)

dens in dente and palatal invaginations (0)

dementia/parkinsonism with non-Alzheimer amyloid plaques (0)

dentin dysplasia-sclerotic bones syndrome (0)

deoxyribose-5-phosphate aldolase deficiency (0)

dermal Ridges, patternless (0)

diarrhea, glucose-stimulated secretory, with common variable immunodeficiency (0)

diastema, dental medial (0)

dilution, pigmentary (0)

discrimination, Two-point, reduction 1N (0)

distal osteosclerosis (0)

distichiasis with congenital anomalies of the heart and peripheral vasculature (0)

DNA, satellite, 3 (0)

DNA, low-repetitive sequences of (0)

double nail for fifth toe (0)

duodenal ulcer due to antral G-cell hyperfunction (0)

duodenal ulcer, hyperpepsinogenemic 1 (0)

dwarfism, Levi type (0)

dwarfism with stiff joints and ocular abnormalities (0)

dystelephalangy (0)

ear antitragus, tag at base of (0)

ear exostoses (0)

ear folding (0)

preauricular fistulae, congenital (0)

ear pits, posterior helical (0)

earring holes, natural (0)

ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet (0)

ectodermal dysplasia with adrenal cyst (0)

ectopia pupillae (0)

ectrodactyly and ectodermal dysplasia without cleft lip/palate (0)

ectrodactyly-cleft palate syndrome (0)

edema, familial idiopathic, prepubertal (0)

electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon (0)

electroencephalographic peculiarity: fronto-precentral beta wave groups (0)

Electroencephalographic peculiarity: occipital slow beta waves (0)

emphysema, hereditary pulmonary (0)

enolase, sperm specific (0)

eosinophilia, familial (0)

Eosinophilopenia (0)

epidermoid cysts (0)

epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase (0)

erythema nodosum, familial (0)

esophageal ring, lower (0)

esterase ES-2, regulator for (0)

exchondrosis of pinna, posterior (0)

exostoses of heel (0)

facial hypertrichosis (0)

facial spasm (0)

factor VIII and Factor IX, combined deficiency of (0)

factors VIII, IX and XI, combined deficiency of (0)

factor 9 and Factor XI, combined deficiency of (0)

fibrinolytic defect (0)

fibula, recurrent dislocation of head of (0)

flushing of ears and somnolence (0)

focal epithelial hyperplasia of the oral mucosa (0)

fragile site 10Q23 (0)

Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness (0)

fucosidase regulator (0)

gamma-A-globulin, defect in assembly of (0)

gastric sneezing (0)

gastric volvulus, intrathoracic (0)

gastric juice peptides (0)

gastric mucosal hypertrophy (0)

genochondromatosis (0)

genu valgum, st. Helena familial (0)

giant neutrophil leukocytes (0)

globulin anomaly involving beta (2A)-globulin (0)

Glucoglycinuria (0)

glucose-6-phosphate dehydrogenase-like (0)

glutamic acid decarboxylase, brain, membrane form (0)

glutathione transferase activity toward trans-stilbene oxide (0)

granddad syndrome (0)

granulosis rubra nasi (0)

graying of hair, precocious (0)

guanylate kinase 3 (0)

hairy nose tip (0)

hairy palms and soles (0)

hand clasping pattern (0)

Kasabach-Merritt syndrome (0)

hemolytic poikilocytic anemia due to reduced ankyrin binding sites (0)

hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain (0)

hernia, double inguinal (0)

heterochromia iridis (0)

histiocytic dermatoarthritis (0)

HPA 1 Recognition polymorphism, beta-globin-related (0)

5-hydroxytryptamine oxygenase regulator (0)

orthostatic hypotensive disorder, Streeten type (0)

hyperheparinemia (0)

hyperhidrosis palmaris ET plantaris (0)

hyperimmunoglobulin G1(A1) syndrome (0)

hyperlipoproteinemia, type II, and deafness (0)

hyperpigmentation of eyelid (0)

hyperpigmentation of Fuldauer and Kuijpers (0)

hyperproglucagonemia (0)

hypersecretion of adrenal androgens, familial (0)

hypersensitivity pneumonitis, familial (0)

hypertaurinuric cardiomyopathy (0)

hyperthermia, cutaneous, with headaches and nausea (0)

hypertrophia musculorum vera (0)

hypoxanthine guanine phosphoribosyltransferase suppressor (0)

immune suppression (0)

fused mandibular incisors (0)

immunoglobulin switch sequences (0)

incisors, long upper central (0)

insulin receptors, familial increase 1N (0)

incisors, lower central, absence of (0)

incisors, rotation of upper central (0)

incisors, shovel-shaped (0)

insensitivity to pain with hyperplastic Myelinopathy (0)

insect Stings, hypersensitivity to (0)

interferon antiviral depressor (0)

iris pigment layer, cleavage of (0)

intussusception (0)

internal carotid artery, spontaneous dissection of (0)

keloid formation (0)

keratosis, familial actinic (0)

knuckle pads (0)

Kyrle disease (0)

labia minora, incomplete adhesion of (0)

lactic acidosis, chronic adult form (0)

laryngeal adductor paralysis (0)

lattice degeneration of retina leading to retinal detachment (0)

lazy leukocyte syndrome (0)

leg ulcers, familial, of juvenile onset (0)

lentiginosis, centrofacial neurodysraphic (0)

leukocyte nuclear appendages, hereditary prevalence of (0)

levator-medial rectus synkinesis (0)

lip, hamartomatous (0)

lipoprotein types--Lt system (0)

lipoprotein, variant of beta (0)

lithium transport (0)

low density lipoprotein, variation in molecular weight of (0)

lumbar stenosis, familial (0)

macrocephaly, benign familial (0)

malocclusion due to protuberant upper front teeth (0)

Mammastatin (0)

mannose 6-phosphate receptor recognition defect, Lebanese type (0)

marfanoid hypermobility syndrome (0)

masticatory muscles, hypertrophy of (0)

maxillofacial dysostosis (0)

Meckel diverticulum (0)

mediosternal depigmentation line (0)

Megalodactyly (0)

melanoma tumor antigen Gp90 (0)

mental and growth retardation with amblyopia (0)

mesomelic dwarfism of hypoplastic tibia and radius type (0)

metachromasia of fibroblasts (0)

metatarsus varus, type 1 (0)

microphthalmia, isolated, with corectopia (0)

microspherophakia with hernia (0)

milia, multiple eruptive (0)

antigen defined by monoclonal antibody Aj9 (0)

antigen defined by monoclonal antibody T87 (0)

Monophalangy of great toe (0)

nondisjunction (0)

multiple exostoses with spastic tetraparesis (0)

muscle cramps, familial (0)

muscular atrophy, malignant neurogenic (0)

muscular hypoplasia, congenital universal, of Krabbe (0)

myelinated optic nerve fibers (0)

myoclonus and ataxia (0)

myopathy with storage of glycoproteins and Glycosaminoglycans (0)

nasal alar collapse, bilateral (0)

nasal bones, absence of (0)

nasal groove, familial transverse (0)

nasal hyperpigmentation, familial transverse (0)

navicular bone, accessory (0)

neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome (0)

neuropathy, congenital, with arthrogryposis multiplex (0)

neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance (0)

neuropathy, with paraprotein in serum, cerebrospinal fluid and urine (0)

neutropenia, chronic familial (0)

abnormal neutrophil chemotactic response (0)

nevus anemicus (0)

nevus flammeus of nape of neck (0)

nipples inverted (0)

familial supernumerary nipples (0)

noduli Cutanei, multiple, with urinary tract abnormalities (0)

nose, anomalous shape of (0)

ocular dominance (0)

onychogryposis, pedal, with keratosis plantaris and coarse hair (0)

olivopontocerebellar atrophy 5 (0)

omphalocele, autosomal (0)

ophthalmoplegia, familial static (0)

ophthalmoplegia, familial total, with iris transillumination (0)

ossified ear cartilages (0)

ossicular malformations, familial (0)

osteosclerosis with ichthyosis and fractures (0)

ovalocytosis, hereditary hemolytic, with defective erythropoiesis (0)

osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension (0)

palmaris longus muscle, absence of (0)

pancytopenia and occlusive vascular disease (0)

papillomatosis, confluent and reticulated (0)

papillomatosis, florid, of nipple (0)

Paramolar tubercle of bolk (0)

Parotidomegaly, hereditary bilateral (0)

Passovoy factor defect (0)

patella, familial recurrent dislocation of (0)

Pechet factor deficiency (0)

pectus excavatum (0)

pelvic lipomatosis with crossed renal ectopia (0)

peroneal nerve, accessory deep (0)

peroxidase, salivary (0)

phagocytosis, plasma-related defect 1N (0)

pheochromocytoma-islet cell tumor syndrome (0)

phlebectasia of lips (0)

phosphatase, acid, of tissues (0)

phosphoglucomutase 4 (0)

6-phosphogluconolactonase deficiency (0)

phosphoglycoprotein 1 (0)

photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction (0)

pigmented purpuric eruption (0)

pilonidal sinus (0)

platelet adenylate cyclase activity (0)

platelet aggregation, spontaneous (0)

platelet disorder, undefined (0)

platelet factor 3 deficiency (0)

platelet membrane fluidity (0)

platelet responsiveness to adrenaline, depressed (0)

platelet signal processing defect (0)

polyposis, intestinal, scattered and discrete (0)

polyposis, intestinal, with multiple exostoses (0)

polyposis of gastric fundus without polyposis coli (0)

polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (0)

popliteal cyst (0)

posterior column ataxia (0)

presenile dementia, Kraepelin type (0)

priapism, familial idiopathic (0)

pelvic organ prolapse, susceptibility to (0)

pronation-supination of the forearm, impairment of (0)

proteolytic capacity of plasma (0)

Protrusio acetabuli (0)

pruritus, hereditary localized (0)

pseudoarthrogryposis (0)

Pseudoatrophoderma colli (0)

pseudocholinesterase, increase in plasma level of (0)

pseudomonilethrix (0)

pterygium colli, isolated (0)

pubic bone dysplasia (0)

pulmonary atresia with ventricular septal defect (0)

pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities (0)

pulmonic stenosis and deafness (0)

pupil, egg-shaped (0)

pupillary membrane, persistence of (0)

purpura simplex (0)

radial heads, posterior dislocation of (0)

radius, aplasia of, with cleft lip/palate (0)

ragweed sensitivity (0)

raindrop hypopigmentation (0)

red cell permeability defect (0)

red cell phospholipid defect with hemolysis (0)

retinal venous beading (0)

salivary substance, Clostridium botulinum type (0)

salivary duct calculi (0)

scapula, contour of vertebral border of (0)

sella turcica, bridged (0)

sister chromatid exchange, frequency of (0)

skeletal dysplasia with delayed epiphyseal and carpal bone ossification (0)

slipped femoral capital epiphyses (0)

ketone compounds, ability to smell (0)

Somatomedin, embryonic (0)

spastic paraplegia with associated extrapyramidal signs (0)

spastic paraplegia, optic atrophy, and dementia (0)

sperm protamine P4 (0)

spinocerebellar ataxia with rigidity and peripheral neuropathy (0)

spinocerebellar atrophy with pupillary paralysis (0)

splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells (0)

split lower lip (0)

split-hand and split-foot with hypodontia (0)

spondylosis, cervical (0)

sternum, premature obliteration of sutures of (0)

storm syndrome (0)

strabismus, susceptibility to (0)

striae distensae, familial (0)

sulfhemoglobinemia, congenital (0)

surface antigen, glycoprotein 75 (0)

symphalangism of toes (0)

surface polypeptides, anonymous (0)

symphalangism, C. S. Lewis type (0)

synovial chondromatosis, familial, with dwarfism (0)

syringomas, multiple (0)

talonavicular coalition (0)

tarsal coalition (0)

tear protein, anodal (0)

T-cell Subgroups, non-HLA-linked (0)

teeth, odd shapes of (0)

teeth present at birth (0)

teeth, supernumerary (0)

temperature-sensitive lethal mutation (0)

spermatic cord torsion (0)

tetralogy of fallot and glaucoma (0)

theophylline Biotransformation (0)

thoracic dysostosis, isolated (0)

thumb deformity (0)

thyroid hormone plasma membrane transport defect (0)

tibial torsion, bilateral medial (0)

toe, fifth, number of phalanges 1N (0)

toe, misshapen (0)

toe, rotated fifth (0)

toes, relative length of first and second (0)

toes, space between first and second (0)

malposition of teeth with or without hypodontia/oligodontia (0)

torus palatinus and torus mandibularis (0)

tremor of intention, ataxia, and lipofuscinosis (0)

trichoepitheliomas, multiple desmoplastic (0)

trigger thumb (0)

triphalangeal thumb with double phalanges (0)

triphalangeal thumb, Nonopposable (0)

Tristichiasis (0)

Tuftsin deficiency (0)

suppressor of tumorigenicity 3 (0)

tune deafness (0)

twinning due to superfetation (0)

Undritz anomaly (0)

urate-binding globulin, decrease 1N (0)

ureter, bifid or double (0)

ureterocele (0)

urolithiasis, uric acid, autosomal dominant (0)

urinary bladder, atony of (0)

uterine anomalies (0)

vascular helix of umbilical cord (0)

veins, pattern of, on anterior thorax (0)

venular insufficiency, systemic (0)

vertebral hypoplasia with lumbar kyphosis (0)

vestibulocochlear dysfunction, progressive (0)

virus Rd114 RNA Complementarity (0)

volvulus of midgut (0)

widow's peak (0)

Woronets trait (0)

aganglionosis, total intestinal (0)

agenesis of cerebral white matter (0)

amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis (0)

Amobarbital, deficient N-hydroxylation of (0)

amyloidosis of gingiva and conjunctiva, with intellectual disability (0)

amyloidosis, cutaneous bullous (0)

angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert (0)

anosmia for isobutyric acid (0)

antithrombin, familial hemorrhagic diathesis due to (0)

arteriosclerosis, severe juvenile (0)

arthrogryposis, distal, with intellectual disability and characteristic facies (0)

asthma, short stature, and elevated IgA (0)

ataxia with myoclonic epilepsy and presenile dementia (0)

ataxia, deafness, and cardiomyopathy (0)

ataxia-microcephaly-cataract syndrome (0)

Athrombia, essential (0)

atonic-astatic syndrome of Foerster (0)

berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification (0)

beta-aminoisobutyric acid, urinary excretion of (0)

biliary malformation with renal tubular insufficiency (0)

Bowen syndrome of multiple malformations (0)

brachydactyly, type A2, with microcephaly (0)

Sabinas brittle hair syndrome (0)

camptodactyly-ichthyosis syndrome (0)

congenital disorder of glycosylation, type i/IIx (0)

cardiac septal defects with coarctation of the aorta (0)

cardioauditory syndrome of Sanchez Cascos (0)

cardiomyopathy associated with myopathy and sudden death (0)

carnitine deficiency, myopathic (0)

premature centromere division (0)

cephalin lipidosis (0)

cerebellar ataxia and neurosensory deafness (0)

cerebellar ataxia, benign, with thermoanalgesia (0)

cerebral angiopathy, dysphoric (0)

cerebral malformation, seizures, hypertrichosis, and overlapping fingers (0)

cerebrocortical degeneration of infancy (0)

cervical vertebrae, agenesis of (0)

CHAND syndrome (0)

cholestasis with gallstone, ataxia, and visual disturbance (0)

cholesterol pneumonia (0)

chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome (0)

chromosomal instability with tissue-specific radiosensitivity (0)

circumvallate placenta syndrome (0)

citrulline transport defect (0)

combined inflammatory and immunologic defect (0)

convulsive disorder, familial, with prenatal or early onset (0)

corneal degeneration, band-shaped spheroid (0)

cramps, familial adolescent (0)

cranial nerves, congenital paresis of (0)

cranial nerves, recurrent paresis of (0)

craniosynostosis with anomalies of the cranial base and digits (0)

craniosynostosis-intellectual disability syndrome of 51N and Gettig (0)

curved nail of fourth toe (0)

cutis verticis gyrata and intellectual disability (0)

cyanosis and hepatic disease (0)

cysteine Peptiduria (0)

cystic disease of lung (0)

deafness, congenital, and familial myoclonic epilepsy (0)

deafness, neural, congenital moderate (0)

deafness, neural, with atypical atopic dermatitis (0)

dextrocardia with unusual facies and microphthalmia (0)

diaminopentanuria (0)

disseminated sclerosis with narcolepsy (0)

diverticulosis, small-intestinal (0)

Dohle bodies and leukemia (0)

dopamine beta-hydroxylase, plasma, thermolability of (0)

dwarfism, low-birth-weight type, with unresponsiveness to growth hormone (0)

dwarfism, intellectual disability, and eye abnormality (0)

dwarfism, proportionate, with hip dislocation (0)

dysautonomia-like disorder (0)

dysmyelination with jaundice (0)

dystonia with Ringbinden (0)

encephalomalacia, multilocular (0)

encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts (0)

endocardial fibroelastosis and coarctation of abdominal aorta (0)

endothelial dystrophy, congenital hereditary, with nail hypoplasia (0)

epidermolysis bullosa with diaphragmatic hernia (0)

epilepsy, photogenic, with spastic diplegia and intellectual disability (0)

epiphyseal dysplasia of femoral head, myopia, and deafness (0)

epithelial squamous dysplasia, keratinizing desquamative, of urinary tract (0)

erythema of acral regions (0)

ethanolaminosis (0)

facial abnormalities, kyphoscoliosis, and intellectual disability (0)

faciothoracogenital syndrome (0)

Fanconi-like syndrome (0)

fever, familial lifelong persistent (0)

focal epithelial hyperplasia (0)

Fraser-like syndrome (0)

Freesia Flowers, inability to smell (0)

Friedreich ataxia and congenital glaucoma (0)

fructose and galactose intolerance (0)

fructose utilization (0)

monosodium glutamate sensitivity (0)

gluteal muscles, absence of (0)

GOMBO syndrome (0)

granulocytopenia with immunoglobulin abnormality (0)

grouped pigmentation of the retina (0)

Halothane hepatitis (0)

hemangiomatosis, cutaneous, with associated features (0)

Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect (0)

familial lipochrome histiocytosis (0)

Hooft disease (0)

Hutterite cerebroosteonephrodysplasia syndrome (0)

hydroxyprolinemia (0)

hymen, imperforate (0)

hyperleucine-Isoleucinemia (0)

hypermetabolism due to defect in mitochondria (0)

hyperopia, high (0)

hyperparathyroidism, neonatal self-limited primary, with hypercalciuria (0)

hyperphosphatemia, polyuria, and seizures (0)

hypertelorism and tetralogy of fallot (0)

hypertrophic neuropathy and cataract (0)

hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase (0)

hypervitaminosis a, susceptibility to (0)

hypogonadism with low-grade mental deficiency and microcephaly (0)

hypogonadism, male (0)

hypohidrosis with abnormal palmar dermal Ridges (0)

hypokalemic alkalosis, familial, with specific renal tubulopathy (0)

hypophosphatemia, renal, with intracerebral calcifications (0)

hypopituitarism, congenital, with central diabetes insipidus (0)

ichthyosis congenita with biliary atresia (0)

ichthyosis, split hairs, and amino aciduria (0)

immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes (0)

immunoglobulin d level in plasma, low (0)

indolylacroyl glycinuria with intellectual disability (0)

inosine phosphorylase deficiency, immune defect due to (0)

internal carotid arteries, hypoplasia of (0)

acetylation, slow (0)

isovaleric acid, inability to smell (0)

Jumping Frenchmen of Maine (0)

keratoconus and congenital hip dysplasia (0)

keratoconus posticus circumscriptus (0)

Ketoadipicaciduria (0)

Kniest-like dysplasia with pursed lips and ectopia lentis (0)

Kifafa seizure disorder (0)

lactic aciduria due to D-lactic acid (0)

Lambotte syndrome (0)

leukemia, acute myelocytic, with polyposis coli and colon cancer (0)

lymphoid system deterioration, progressive (0)

lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis (0)

lysine malabsorption syndrome (0)

macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance (0)

macrosomia adiposa congenita (0)

magnesium, elevated red cell (0)

malocclusion and short stature (0)

mandibulofacial dysostosis with mental deficiency (0)

megalencephaly with dysmyelination (0)

mesangial sclerosis, diffuse renal, with ocular abnormalities (0)

mesoaxial hexadactyly and cardiac malformation (0)

metaphyseal chondrodysplasia, Pena type (0)

metaphyseal dysplasia, anetoderma, and optic atrophy (0)

metaphyseal modeling abnormality, skin lesions, and spastic paraplegia (0)

methionine malabsorption syndrome (0)

microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies (0)

microtia with meatal atresia and conductive deafness (0)

mucus inspissation of respiratory tract (0)

muscular dystrophy, adult-onset, with leukoencephalopathy (0)

muscular hypertonia, lethal (0)

musk, inability to smell (0)

myopathy, granulovacuolar lobular, with electrical myotonia (0)

myopathy due to malate-aspartate shuttle defect (0)

myopathy with giant abnormal mitochondria (0)

neurologic disease, infantile multisystem, with osseous fragility (0)

neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive (0)

obesity-hypoventilation syndrome (0)

ocular myopathy with curare sensitivity (0)

oculocerebral hypopigmentation syndrome of Preus (0)

oculorenocerebellar syndrome (0)

olivopontocerebellar atrophy II, autosomal recessive (0)

Onychotrichodysplasia and neutropenia (0)

ophthalmoplegia totalis with ptosis and miosis (0)

ophthalmoplegic neuromuscular disorder with abnormal mitochondria (0)

optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive (0)

Opticocochleodentate degeneration (0)

oral sensibility, disturbance of (0)

osteodysplasty, precocious, of Danks, Mayne, and Kozlowski (0)

osteoma of middle ear (0)

osteomalacia, sclerosing, with cerebral calcification (0)

PA polymorphism of alpha-2-globulin (0)

palant cleft palate syndrome (0)

pallidal degeneration, progressive, with retinitis pigmentosa (0)

pancreatitis, sclerosing cholangitis, and sicca complex (0)

Partington-Anderson syndrome (0)

Pelger-Huet-like anomaly and episodic fever with abdominal pain (0)

pellagra-like syndrome (0)

pericardial effusion, chronic (0)

peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain (0)

peroneus tertius muscle, absence of (0)

phenformin 4-hydroxylation (0)

pituitary dwarfism with large sella turcica (0)

plasma clot retraction factor, deficiency of (0)

platelet prostacyclin receptor defect (0)

pleoconial myopathy with salt craving (0)

polycystic kidney, cataract, and congenital blindness (0)

polymyoclonus, infantile (0)

polysaccharide, storage of unusual (0)

polyhydramnios, chronic idiopathic (0)

Prepapillary vascular loops (0)

prolactin deficiency, isolated (0)

prolactin deficiency with obesity and enlarged testes (0)

prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness (0)

Pseudouridinuria and mental defect (0)

pulmonary bullae causing pneumothorax (0)

pulmonic stenosis and congenital nephrosis (0)

radiculoneuropathy, fatal neonatal (0)

red skin pigment anomaly of new guinea (0)

Reese retinal dysplasia (0)

renal and mullerian duct hypoplasia (0)

respiratory underresponsiveness to hypoxia and hypercapnia (0)

retinal degeneration and epilepsy (0)

retinal telangiectasia and hypogammaglobulinemia (0)

retinitis pigmentosa inversa with deafness (0)

retinopathy, pigmentary, and intellectual disability (0)

rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (0)

Rowley-Rosenberg syndrome (0)

second metatarsal-metacarpal syndrome (0)

senile plaque formation (0)

short stature-obesity syndrome (0)

Sjogren-Larsson-like ichthyosis without CNS or eye involvement (0)

anosmia for butyl mercaptan (0)

sodium-potassium-ATPase activity of red cell (0)

ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability (0)

spastic diplegia and intellectual disability (0)

spastic paraplegia with myoclonic epilepsy (0)

spastic pseudosclerosis (0)

spinal muscular atrophy with intellectual disability (0)

spinal muscular atrophy with microcephaly and mental subnormality (0)

splenoportal vascular anomalies (0)

sucrosuria, hiatus hernia and intellectual disability (0)

syndesmodysplasic dwarfism (0)

taurodontism (0)

teeth, fused (0)

testes, rudimentary (0)

tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities (0)

thalamic degeneration, symmetric infantile (0)

thalidomide susceptibility (0)

Threoninemia (0)

thumb, distal hyperextensibility of (0)

thymic aplasia with fetal death (0)

thymoma, familial (0)

tiglic acidemia (0)

tibia, absence of, with congenital deafness (0)

tongue, pigmented fungiform papillae of (0)

Tryptophanuria with dwarfism (0)

T-substance anomaly (0)

Tyrosinosis (0)

ulnar agenesis and endocardial fibroelastosis (0)

van Bogaert-Hozay syndrome (0)

vitiligo, progressive, with intellectual disability and urethral duplication (0)

xylosidase deficiency (0)

arthrogryposis, congenital, lower limb, X-linked (0)

hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses (0)

episodic muscle weakness, X-linked (0)

radioulnar synostosis, radial ray abnormalities, and severe malformations in the male (0)

radial ray deficiency, X-linked (0)

coronary heart disease, susceptibility to, 3 (0)

cataract, ataxia, short stature, and intellectual disability (0)

deafness, cataract, retinitis pigmentosa, and sperm abnormalities (0)

cardiomyopathy, fatal fetal, due to myocardial calcification (0)

tubulin, beta (0)

central incisors, absence of (0)

Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita (0)

Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined (0)

cutis verticis gyrata, thyroid aplasia, and intellectual disability (0)

inherited genitourinary tract anomalies (0)

glutamyl ribose-5-phosphate storage disease (0)

granulomas, congenital cerebral (0)

hemopoietic proliferation (0)

Hhhh syndrome (0)

ichthyosis and male hypogonadism (0)

immunoglobulin M, level of (0)

impacted teeth, multiple (0)

imprinting gene related to retinoblastoma (0)

jaundice, familial obstructive, of infancy (0)

Kallmann syndrome with spastic paraplegia (0)

modifier, X-linked, for Neurofunctional defects (0)

myelolymphatic insufficiency (0)

nuclear ribonucleic acid (0)

occipital hair, white lock of (0)

omphalocele, X-linked (0)

ophthalmoplegia, external, and myopia (0)

optic atrophy--spastic paraplegia syndrome (0)

ouabain resistance (0)

Paine syndrome (0)

radiation sensitivity of natural killer activity (0)

reticuloendotheliosis, X-linked (0)

spatial visualization, aptitude for (0)

Taqi polymorphism (0)

taurodontism, microdontia, and dens invaginatus (0)

thrombocytopenia with elevated serum IgA and renal disease (0)

thumbs, congenital Clasped (0)

unique green phenomenon (0)

widow's peak syndrome (0)

hairy ears, Y-linked (0)

ubiquitin-activating enzyme, Y-linked (0)

hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial (0)

chloramphenicol toxicity (0)

nephropathy, chronic tubulointerstitial (0)

pancreatic beta cell agenesis with neonatal diabetes mellitus (0)

succinic acidemia (0)

parotid salivary glands, polycystic dysgenetic disease of (0)

enteropathy, familial, with villous edema and immunoglobulin G2 deficiency (0)

pachydermodactyly, familial (0)

angiokeratoma corporis diffusum with arteriovenous fistulas (0)

pigment dispersion syndrome (0)

setting-Sun phenomenon, familial benign (0)

varicella, severe recurrent (0)

proximal myopathy with focal depletion of mitochondria (0)

dwarfism, familial, with muscle spasms (0)

isoproterenol-mediated vasodilatation (0)

mitochondrial import-stimulating factor (0)

ectodermal dysplasia with intellectual disability and syndactyly (0)

enamel hypoplasia, cataracts, and aqueductal stenosis (0)

agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations (0)

protocadherin 3 (0)

portal vein, cavernous transformation of (0)

midline malformations, multiple, with limb abnormalities and hypopituitarism (0)

ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin (0)

guanylate cyclase 2E (0)

trisomy 18-like syndrome (0)

muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers (0)

myeloid tumor suppressor (0)

epithelial basolateral chloride conductance regulator, rabbit, homolog of (0)

atrophia maculosa varioliformis cutis, familial (0)

spinal dysplasia, Anhalt type (0)

Martinez-Frias syndrome (0)

myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay (0)

ectrodactyly of lower limbs, congenital heart defect, and micrognathia (0)

lethal short-limb skeletal dysplasia, Al Gazali type (0)

amelia cleft lip palate hydrocephalus iris coloboma (0)

cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction (0)

microcephaly, corpus callosum dysgenesis, and cleft lip/palate (0)

anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis (0)

patent ductus venosus (0)

ribbing disease (0)

microcephaly, retinitis pigmentosa, and sutural cataract (0)

horns in sheep (0)

spastic paraplegia and Evans syndrome (0)

iris pigment epithelium anomalies (0)

acute insulin response (0)

sebaceous gland hyperplasia, familial presenile (0)

superior transverse scapular ligament, calcification of, familial (0)

folate level in erythrocytes (0)

Spondylospinal thoracic dysostosis (0)

vacuolar Neuromyopathy (0)

sperm-specific antigen 1 (0)

otofacioosseous-gonadal syndrome (0)

hyperzincemia with functional zinc depletion (0)

leishmaniasis, tegumentary, susceptibility to (0)

broad terminal phalanges, familial (0)

medium chain 3-ketoacyl-Coa thiolase deficiency (0)

ventriculomegaly with defects of the radius and kidney (0)

progeroid facial appearance with hand anomalies (0)

mitochondrial intermembrane space protein Tim12, yeast, homolog of (0)

sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth (0)

Weyers ulnar ray/oligodactyly syndrome (0)

creases, infra-auricular cutaneous, with tall stature and advanced bone age (0)

pseudoacromegaly with severe insulin resistance (0)

jejunal atresia with renal adysplasia (0)

microcephaly, macrotia, and intellectual disability (0)

facial dysmorphism, cleft palate, hearing loss, and camptodactyly (0)

brachydactyly, intraventricular septal defect, and deafness (0)

emphysema, congenital, with deafness, penoscrotal web, and intellectual disability (0)

pancreatic lymphoma, familial (0)

skeletal dysplasia and progressive central nervous system degeneration, lethal (0)

intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration (0)

bile duct cysts (0)

tumor suppressor gene on chromosome 11 (0)

spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal (0)

apraxia of eyelid opening (0)

dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability (0)

Homocysteinemia (0)

muscular dystrophy, congenital, with cerebellar atrophy (0)

long chain fatty acids, defect in transport of (0)

Osebold skeletal dysplasia/osteolysis syndrome (0)

osteosclerotic chondrodysplasia, lethal, with intracellular inclusions (0)

microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects (0)

Tonoki syndrome (0)

activator of liver function 1 (0)

expansile bone lesions (0)

Oroacral syndrome, Verloes-Koulischer type (0)

Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin (0)

light fixation seizure syndrome (0)

microcephaly, facial abnormalities, micromelia, and intellectual disability (0)

follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts (0)

parotitis, juvenile recurrent (0)

facial dysmorphism, selective tooth agenesis, and choroid calcification (0)

osteoma of cranial vault, familial (0)

neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia (0)

atrial septal defect, secundum, with various cardiac and Noncardiac defects (0)

exostosis, Dupuytren subungual (0)

eccrine syringofibroadenomatosis with eyelid abnormalities (0)

blue nevi, familial multiple (0)

Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (0)

urinary tract infections, recurrent, susceptibility to (0)

cholesteatoma, congenital (0)

Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly (0)

camera-Marugo-Cohen syndrome (0)

Ascaris lumbricoides infection, susceptibility to (0)

anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome (0)

myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders (0)

ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia (0)

lissencephaly, familial, with cleft palate and cerebellar hypoplasia (0)

growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia (0)

polycystic bone disease (0)

mandibulofacial dysostosis syndrome, Bauru type (0)

hyaluronan metabolism, defect 1N (0)

diabetes mellitus, congenital autoimmune (0)

low density lipoprotein cholesterol, mild elevation of (0)

clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia (0)

tricuspid atresia (0)

early response to neural induction gene (0)

frontoocular syndrome (0)

fibromatosis, gingival, with hypertrichosis and intellectual disability (0)

tetralogy of fallot syndrome, autosomal recessive (0)

anisomastia (0)

ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis (0)

short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting (0)

arthropathy, erosive (0)

liver fibrocystic disease and polydactyly (0)

crumpled helices and small mouth (0)

acromegaloid features, overgrowth, cleft palate, and hernia (0)

Sener syndrome (0)

baculum, congenital absence of (0)

carnitine acetyltransferase deficiency (0)

laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy (0)

intellectual disability, short stature, facial anomalies, and joint dislocations (0)

intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism (0)

Megarbane syndrome (0)

polysubstance abuse, susceptibility to (0)

peripheral arterial occlusive disease 1 (0)

anorexia nervosa, susceptibility to, 1 (0)

stroke, susceptibility to, 1 (0)

parasomnia, sleep bruxism type (0)

Cardioneuromyopathy with hyaline masses and nemaline rods (0)

Cree intellectual disability syndrome (0)

duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery (0)

symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch (0)

laryngeal atresia, enceph