Search results for chd7

128 hits were found for chd7

#	Family	MCID	Name	MIFTS	Score
1		CHR103	Charge Syndrome	66	8.229

2	P	KLL001	Kallmann Syndrome	64	5.010

3	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	45	4.366

4	P	HYP730	Hypogonadotropic Hypogonadism	53	3.590

5	P	SCL018	Scoliosis	60	3.501

6	c	KLL007	Kallmann Syndrome 5	13	3.292

7		HYP080	Hypogonadism	50	3.259

8	P	HRT032	Heart Disease	75	3.095

9	P	MYP006	Myopia	55	3.095

10		CLB010	Coloboma of Macula	53	2.780

11	P	HYP086	Hypothyroidism	68	2.720

12		IDP070	Idiopathic Scoliosis	37	2.698

13	c	SCL049	Scoliosis, Isolated 3	18	2.295

14	P	ATR001	Atrioventricular Septal Defect	55	2.229

15		OMN001	Omenn Syndrome	66	2.203

16	P	SNS001	Sensorineural Hearing Loss	61	2.203

17		ESP020	Esophageal Atresia	62	2.173

18	c	AMY091	Amyotrophic Lateral Sclerosis 1	89	2.138

19		PFF001	Pfeiffer Syndrome	79	2.138

20	P	NNN008	Noonan Syndrome 1	76	2.138

21		BRN028	Brain Cancer	73	2.138

22		LNG039	Lung Squamous Cell Carcinoma	65	2.138

23		MCR013	Microphthalmia	60	2.138

24		RFR003	Refractive Error	44	2.138

25		CHN065	Choanal Atresia, Posterior	50	2.038

26	c	CNG562	Congenital Hypogonadotropic Hypogonadism	30	1.649

27		RTN123	Retinochoroidal Coloboma	20	1.649

28		DGR001	Digeorge Syndrome	63	1.623

29	c	RRH009	Rare Hypothyroidism	23	1.623

30	P	ATR010	Atrial Heart Septal Defect	60	1.593

31	P	PTN014	Patent Ductus Arteriosus 1	60	1.593

32		NRM018	Normosmic Congenital Hypogonadotropic Hypogonadism	40	1.593

33		CRY035	Cryptorchidism, Unilateral or Bilateral	59	1.558

34		HRT011	Heart Septal Defect	50	1.558

35	P	DNR001	Duane Retraction Syndrome	49	1.558

36	P	RTN008	Retinitis Pigmentosa	77	1.512

37	P	TTR001	Tetralogy of Fallot	69	1.512

38	P	KBK002	Kabuki Syndrome 1	67	1.512

39	P	TRC072	Treacher Collins Syndrome 1	66	1.512

40	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	64	1.512

41	P	CRN015	Cornelia De Lange Syndrome	63	1.512

42	c	VSC019	Vesicoureteral Reflux 1	59	1.512

43	P	STR020	Strabismus	56	1.512

44		PPL048	Papillorenal Syndrome	55	1.512

45	P	TWN003	Townes-Brocks Syndrome	55	1.512

46		ANS023	Anus, Imperforate	55	1.512

47	P	FNG006	Feingold Syndrome 1	55	1.512

48		NSD001	Nose Disease	46	1.512

49	P	BRN006	Branchiootorenal Syndrome	45	1.512

50		VCT001	Vacterl Association	44	1.512

51	P	ORF002	Orofacial Cleft	43	1.512

52		PHY002	Physical Disorder	42	1.512

53	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	37	1.512

54	c	ATS203	Autosomal Dominant Non-Syndromic Intellectual Disability	36	1.512

55		ESP029	Esophageal Atresia/tracheoesophageal Fistula	36	1.512

56		NSL022	Nasal Cavity Disease	33	1.512

57		LCH003	Lichen Nitidus	30	1.512

58	c	DFN162	Deafness, Autosomal Dominant 59	29	1.512

59		SBC005	Subacute Lymphocytic Thyroiditis	26	1.512

60	c	BRN108	Branchiootic Syndrome 1	61	0.298

61		HYP064	Hypogonadotropism	40	0.200

62		ISL004	Isolated Gonadotropin-Releasing Hormone Deficiency	26	0.147

63		CLF001	Cleft Lip	53	0.136

64	P	HYP535	Hypogonadotropic Hypogonadism 7 with or Without Anosmia	58	0.124

65		ATX031	Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus	56	0.124

66		CLF004	Cleft Lip/palate	54	0.111

67	c	ATS007	Autism Spectrum Disorder	67	0.096

68		ALC028	Alacrima, Achalasia, and Mental Retardation Syndrome	65	0.096

69	P	CRB045	Cerebellar Hypoplasia	37	0.096

70	P	PNC035	Pancreatic Cancer	84	0.078

71		CLF027	Cleft Palate, Isolated	64	0.078

72		LYM027	Lymphopenia	57	0.078

73	c	HLP023	Holoprosencephaly 1	53	0.078

74		PYL006	Pyloric Stenosis	48	0.078

75		INT276	Interatrial Communication	42	0.078

76	c	DNR003	Duane Retraction Syndrome 1	41	0.078

77	P	PRS040	Prostate Cancer	97	0.055

78	c	LKM061	Leukemia, Acute Myeloid	83	0.055

79	P	MDL005	Medulloblastoma	77	0.055

80		MRF001	Marfan Syndrome	75	0.055

81		GLB015	Glioblastoma Multiforme	75	0.055

82		SVR004	Severe Combined Immunodeficiency	73	0.055

83		OTT002	Otitis Media	71	0.055

84		GRG001	Greig Cephalopolysyndactyly Syndrome	67	0.055

85	P	HYP098	Hypereosinophilic Syndrome	66	0.055

86	c	HRD010	Hereditary Spastic Paraplegia	66	0.055

87		GST092	Gastroesophageal Reflux	65	0.055

88		YMN001	Yemenite Deaf-Blind Hypopigmentation Syndrome	65	0.055

89		TTN003	Tetanus	64	0.055

90		SPN186	Spinal Cord Injury	60	0.055

91	P	VNT002	Ventricular Septal Defect	60	0.055

92	P	USH001	Usher Syndrome	59	0.055

93	P	PLY006	Polydactyly	58	0.055

94	P	ALP008	Alopecia	56	0.055

95	P	HYP024	Hypoparathyroidism	55	0.055

96		VLC001	Velocardiofacial Syndrome	54	0.055

97		FRY006	Fryns Microphthalmia Syndrome	54	0.055

98		AMN001	Amenorrhea	54	0.055

99		PRP016	Paraplegia	53	0.055

100		KRT006	Keratoconjunctivitis	53	0.055

101		EXP004	Exophthalmos	52	0.055

102		CMB003	Combined T Cell and B Cell Immunodeficiency	52	0.055

103		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	51	0.055

104		PNC041	Pancreatic Ductal Adenocarcinoma	51	0.055

105	P	HYP077	Hypertrichosis	50	0.055

106		SVR096	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	50	0.055

107	P	OTS001	Otosclerosis	50	0.055

108		AMB002	Amblyopia	50	0.055

109		KRT001	Keratoconjunctivitis Sicca	50	0.055

110		PTS001	Patau Syndrome	49	0.055

111		RTN187	Retinitis Pigmentosa-Deafness Syndrome	47	0.055

112	P	TRT019	Torticollis	47	0.055

113		SVR098	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	47	0.055

114		UMB002	Umbilical Hernia	47	0.055

115		MDD010	Middle Ear Disease	46	0.055

116		LRY029	Laryngomalacia	45	0.055

117		GRW007	Growth Hormone Deficiency	43	0.055

118		HMP009	Haemophilus Influenzae	42	0.055

119	P	HYP265	Hypotonia	42	0.055

120	c	RTN041	Retinitis Pigmentosa 11	41	0.055

121		SPP007	Suppression Amblyopia	39	0.055

122		BLP006	Blepharoconjunctivitis	38	0.055

123		PST092	Posttransplant Acute Limbic Encephalitis	29	0.055

124		ART030	Aortic Arch Interruption	27	0.055

125		ISL019	Isolated Duane Retraction Syndrome	22	0.055

126	P	CHD006	Chd2-Related Neurodevelopmental Disorders	19	0.055

127		RRT002	Rare Tumor of Pancreas	17	0.055

128		8Q1001	8q12 Microduplication Syndrome	16	0.055