Gene: Nisch MGI:1928323

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Gene Summary

Name:
nischarin
Synonyms:
1200007D05Rik,  3202002H23Rik,  edsn

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating triglyceride level Nischtm1b(EUCOMM)Hmgu HOM   Early adult 1.13×10-11
abnormal bone structure Nischtm1b(EUCOMM)Hmgu HET   Early adult 3.11×10-07
head bobbing Nischtm1b(EUCOMM)Hmgu HOM Early adult 2.80×10-05
abnormal behavior Nischtm1b(EUCOMM)Hmgu HOM   Early adult 1.22×10-05
decreased thigmotaxis Nischtm1b(EUCOMM)Hmgu HOM   Early adult 1.22×10-05
impaired glucose tolerance Nischtm1b(EUCOMM)Hmgu HOM   Early adult 4.78×10-05
increased circulating HDL cholesterol level Nischtm1b(EUCOMM)Hmgu HOM   Early adult 3.03×10-07
head bobbing Nischtm1b(EUCOMM)Hmgu HET Early adult 3.50×10-07
impaired glucose tolerance Nischtm1b(EUCOMM)Hmgu HET Early adult 2.52×10-05
abnormal bone structure Nischtm1b(EUCOMM)Hmgu HOM Early adult 7.32×10-09
abnormal maxilla morphology Nischtm1b(EUCOMM)Hmgu HOM Early adult 2.38×10-05
abnormal spine curvature Nischtm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-05
decreased bone mineral content Nischtm1b(EUCOMM)Hmgu HOM Early adult 9.94×10-07
hypoactivity Nischtm1b(EUCOMM)Hmgu HOM Early adult 4.25×10-06
increased circulating phosphate level Nischtm1b(EUCOMM)Hmgu HOM   Early adult 2.55×10-07
abnormal cranium morphology Nischtm1b(EUCOMM)Hmgu HOM Early adult 6.21×10-05
increased circulating cholesterol level Nischtm1b(EUCOMM)Hmgu HOM   Early adult 6.43×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

27 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Echo

M-Mode Images

52 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Nisch mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nisch by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 1B
Hearing impairment, Vestibular dysfunction OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Vestibular dysfunction OMIM:613391
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 65
Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 88
Hearing impairment OMIM:615429
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Usher Syndrome, Type Id
Hearing impairment, Vestibular dysfunction OMIM:601067
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Low-frequency hearing loss, Sensorineural hearing impairment, Progressive hearing impairment OMIM:124900
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus,... OMIM:615924
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Weight loss, Respiratory insufficiency, Asthma, Hemoptysis, Pul... ORPHA:1164
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Delayed eruption of teeth, Increased bone density with cystic ch... ORPHA:94089
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Autoimmune Hypoparathyroidism
Hypocalcemia, Depression, Hypocalcemic tetany, Increased bone mineral density, Laryngeal dystonia... ORPHA:36913
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Myoclonic spasms, Hyperphosphatemia, Hypoc... ORPHA:94090
Ravine Syndrome
Apnea, Abnormality of the larynx, Decreased body weight, Abnormal auditory evoked potentials, Fai... ORPHA:99852
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Growth delay, Pneumonia, Low-set ears, Anteverted nares, Chronic bronchitis, Depresse... OMIM:614069
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Glucose intolerance, Insulin resistance, Impaired glucose tole... OMIM:606721
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short nose, Short stature ORPHA:2015
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Scoliosis, Gait disturbance, Hypertriglyceridemia, Elevated circulating creatine kinase concentra... OMIM:616516
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... OMIM:615703
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
17Q21.31 Microduplication Syndrome
Short nose, Abnormality of the outer ear, Delayed puberty, Failure to thrive, Anteverted nares ORPHA:217340
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impairment, Long nose, Low hangin... OMIM:184460
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Malar prominence, Micrognathia, Insulin-resistant diabetes mellitus ORPHA:436182
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Fas... OMIM:610717
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Conductive hearing impairment, Emphysema, Severe short sta... OMIM:616835
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Delayed eruption of teeth, Insulin resistance, Hypoglycemia, Type II diabet... ORPHA:181393
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia, Subperiosteal bone formation, Hyperostosis, C... OMIM:211900
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Posteriorly rotated ears, Low-set ears, Respiratory fa... ORPHA:1832
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Meier-Gorlin Syndrome 4
Emphysema, Low-set ears, Birth length less than 3rd percentile, Short stature, Failure to thrive,... OMIM:613804
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Hyperphosp... OMIM:617994
Hypocomplementemic Urticarial Vasculitis
Skin rash, Restrictive ventilatory defect, Dyspnea, Pleural effusion, Emphysema, Cough, Uveitis, ... ORPHA:36412
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Hyperphosphatemia, Polyuria, And Seizures
Irritability, Hyperphosphatemia OMIM:239350
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior OMIM:618010
Sinoatrial Node Dysfunction And Deafness
Hearing impairment OMIM:614896
Temple Syndrome
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia, Micr... OMIM:616222
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Ocul... OMIM:208920
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Abnormal pyra... ORPHA:363400
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hypertonia, Hyperkalemia, Hyperphosphatemia OMIM:154276
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Maxillonasal Dysplasia, Binder Type
Short columella, Short nose, Large earlobe, Depressed nasal bridge OMIM:155050
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Short nose, Failure to thrive, Narrow nasal bridge OMIM:618379
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Autosomal Dominant Hypocalcemia
Cortical myoclonus, Hypocalcemia, Depression, Emotional lability, Writer's cramp, Reduced bone mi... ORPHA:428
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Hydroxyprolinemia, Kyphosis, Hyperuricemia, Increased bone mineral density, Hyperph... OMIM:239000
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Self-mutilation, Mandibular prognathia, Head-banging, Hypertrigl... OMIM:182290
Hypophosphatasia
Emphysema, Respiratory insufficiency, Short stature, Failure to thrive in infancy ORPHA:436
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Steppage gait, Spastic dysarthria ORPHA:94124
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young, Poor fine motor coordinati... ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Wide nasal bridge, Low-set ears, Short stature, Anteverted nares, Depressed nasal bridge OMIM:616430
Ring Chromosome 8 Syndrome
Round ear, Short nose, Anteverted nares ORPHA:1450
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Macrotia, Growth delay, Short stature, Depressed nasal bridge ORPHA:438178
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Delayed eruption of teeth, Depression, Hypocalcemic tetany, Incr... ORPHA:79444
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Micrognathia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Delayed eruption of teeth, Depression, Hypocalcemic tetany, Incr... ORPHA:79443
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Scoliosis, Insulin resistance, Kyphosis, Hypertriglyceridemia, Diabetes mellitus, M... OMIM:615381
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Hearing impairment, Short stature, Short nasal septum, Depressed nasal bridge OMIM:302950
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Delayed eruption of teeth, Epiphyseal stippling, Neonatal epiphyseal stippling, Mandib... OMIM:101800
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Rigidity OMIM:145600
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infections... OMIM:242700
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Jerky head mov... ORPHA:251282
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Scoliosis, Difficulty walking, Irritability, Stereotypy, Spasticity OMIM:617393
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Short stature, Depressed nasal ridge ORPHA:1355
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Short nose OMIM:122880
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Stereotypy, Hyperactivity, Hyperprolinemia OMIM:239500
Glycerol Kinase Deficiency
Osteoporosis, Hypertriglyceridemia, Lethargy, Hypoglycemia OMIM:307030
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Low-set, posteriorly rotated ears, Short stature, Depressed nasal... ORPHA:1695
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor... ORPHA:64753
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Growth delay, Protruding ear, Short stature, Recurrent pneumonia, Intrauterine growth... ORPHA:1495
Facial Paresis, Hereditary Congenital, 3
Short nose, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impairment, Facial pals... OMIM:614744
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, Clumsiness ORPHA:488650
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Conductive hearing impairment, Low-set ears, Intrauterine growth retardation, Depress... OMIM:616910
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Bulbous nose, Postnatal growth retardation, Decreased body weight, Hearing impairment, Short stat... OMIM:612947
Adenylosuccinate Lyase Deficiency
Low-set ears, Anteverted nares, Short nose ORPHA:46
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Bronchiectasis, Emphysema, Chronic otitis m... ORPHA:1572
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Baker-Gordon Syndrome
Inability to walk, Scoliosis, Dystonia, Self-injurious behavior, Hyperkinetic movements, Ataxia, ... OMIM:618218
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Micrognathia, Hyperphosphatemia, Patchy osteoscl... ORPHA:2323
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Wide nasal bridge, Short stature, Prominent nasal bridge ORPHA:1200
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Scoliosis, Osteolysis, Abnormal form of the vertebral bodies, Bon... ORPHA:93160
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
High-frequency hearing impairment, Tinnitus, Bilateral sensorineural hearing impairment OMIM:605594
Smith-Magenis syndrome
Self-mutilation, Stereotypy, Hyperactivity DECIPHER:8
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Short nose, Growth delay, Posteriorly rotated ears, Low-set ears, Hearing impairmen... OMIM:613604
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy, Retrognathia, ... OMIM:613670
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Low-set, posteriorly rotated ears, Short nose, Short stature ORPHA:2370
Acrocraniofacial Dysostosis
Conductive hearing impairment, Abnormality of the outer ear, Abnormal auditory evoked potentials,... OMIM:201050
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Hypercholesterolemia, Acroosteolysis of d... ORPHA:2457
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Short nose, Short stature, Wide nasal bridge OMIM:614078
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Abnormal vertebral morphology, Ataxia OMIM:618709
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Bone cyst, Mandibular prognathia, Hyp... ORPHA:528
Rhiny
Anteverted nares, Short nose OMIM:180360
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Polyendocrine-Polyneuropathy Syndrome
Short stature, Progressive hearing impairment, Postnatal growth retardation OMIM:616113
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Mental Retardation, X-Linked 91
Short nose, Obesity OMIM:300577
Netherton Syndrome
Skin rash, Erythroderma, Emphysema, Asthma, Short stature, Eczema, Recurrent respiratory infections ORPHA:634
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Disinhibition, Aggressive behavior, Abnormality of extrapyramidal motor funct... ORPHA:275864
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Dermotrichic Syndrome
Short nose, Proportionate short stature, Macrotia, Aganglionic megacolon, EEG abnormality, Depres... ORPHA:99688
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Inappropriate laughter, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordi... OMIM:619150
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Fibrous Dysplasia Of Bone
Scoliosis, Increased circulating cortisol level, Abnormality of facial skeleton, Hypercalcemia, T... ORPHA:249
Intellectual Developmental Disorder, X-Linked 98
Short nose, Anteverted nares, Underdeveloped nasal alae, Macrotia, Hypsarrhythmia, Growth delay, ... OMIM:300912
Spastic Paraplegia 16, X-Linked
Spastic paraplegia, Mood swings, Lower limb spasticity, Low frustration tolerance, Babinski sign,... OMIM:300266
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Extrapyramidal muscular rigidity, Hypernatremia, Chorea, Hyponatremia, Elev... ORPHA:94093
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
Benign Paroxysmal Torticollis Of Infancy
Apathy, Ataxia, Torticollis, Irritability, Abnormal head movements ORPHA:71518
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia ORPHA:280356
Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Hypocalcemia, Hypoplasia of the nasal bone, Absent/hypoplastic paranasal sinuses, Mand... ORPHA:280651
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Scoliosis, Inappr... ORPHA:3095
Pierpont Syndrome
Short nose, Decreased body weight, Posteriorly rotated ears, Hearing impairment, Short stature, B... OMIM:602342
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Decreased motor nerve conduction velocity, Short nose, Macrotia, Postnatal growth r... OMIM:615419
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Weight loss, Ost... ORPHA:31204
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Impulsivity, Recurrent hand flapping, Hyperactivity, Stereotypic... ORPHA:100973
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Abnormality of the pinna, Low-set ears, Short stature, Broad nasal tip OMIM:613544
Keutel Syndrome
Recurrent bronchitis, Macrotia, Recurrent otitis media, Emphysema, Peripheral pulmonary artery st... OMIM:245150
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Delayed eruption of primary teeth, Taurodontia, Abnormal form of... ORPHA:819
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Tremor, Lethargy, Aggressive behavior, Acute hyperammonemi... ORPHA:247585
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Craniofacial-Deafness-Hand Syndrome
Short nose, Sensorineural hearing impairment, Depressed nasal ridge, Aplasia/Hypoplasia involving... ORPHA:1529
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Myoclonus, Babinski sign,... OMIM:600795
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Enamel hypoplasia, Carious teeth, Delayed eruption of teeth, Rickets, Difficult... OMIM:277440
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Rickets, Glycosuria OMIM:613388
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Hypercholesterolemia, Kyphosis, Ataxia, Stereotypy, Osteopenia, Micrognathia ORPHA:2479
Vitamin K Antagonist Embryofetopathy
Short nose, Choanal atresia, Respiratory insufficiency, Hearing impairment, Intrauterine growth r... ORPHA:1914
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Laron Syndrome
Hypercholesterolemia, Micrognathia, Delayed eruption of teeth, Hypoglycemia ORPHA:633
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Bart-Pumphrey Syndrome
Hearing impairment OMIM:149200
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Mental Retardation, Autosomal Recessive 39
Kyphoscoliosis, Aggressive behavior, Stereotypy, Hyperactivity OMIM:615541
Autosomal Dominant Cutis Laxa
Emphysema ORPHA:90348
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Abnormality of the malleus, Con... ORPHA:949
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Hypercholesterolemia, Maturity-onset diabetes of the young, Poor fine motor coordinati... ORPHA:96184
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Macrotia OMIM:300558
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Enamel hypoplasia, Delayed eruption of teeth, Rickets, Difficulty walking, Irri... OMIM:264700
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Acrocephalopolydactyly
Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Rickets, Postprandial hyperglycemia, Impaired glucose tol... ORPHA:2088
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Posteriorly rotated ears, Lo... OMIM:300209
Mental Retardation, Autosomal Recessive 41
Mandibular prognathia, Retrognathia, Anxiety, Stereotypy OMIM:615637
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Postnatal growth retardation, Low-set ears, Intrauterine growth retardation, Depresse... OMIM:614732
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Aganglionic megacolon, Abnormality of the pinna, Wide nasal bridge, Low-set ears, Mic... OMIM:613603
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertri... OMIM:604367
Mental Retardation, Autosomal Dominant 20
Low-set ears, Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Failure to thrive, Broad nasal tip, Prominent nasal bridge, Severe ... OMIM:615485
Cystinosis
Hypophosphatemia, Rickets, Gait disturbance, Abnormal pyramidal sign, Hypokalemia, Type I diabete... ORPHA:213
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge ORPHA:261120
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Cebalid Syndrome
Short nose, Abnormality of the pinna, Posteriorly rotated ears, Low-set ears, Hearing impairment,... OMIM:618774
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Irritab... OMIM:172700
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Short nose, Aplasia/Hypoplasia of the lungs, Sh... ORPHA:2145
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Persistence of pr... ORPHA:93325
Robinow Syndrome, Autosomal Dominant 2
Short nose, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, ... OMIM:616331
Miller-Dieker Syndrome
Growth delay, Anteverted nares, Short nose, EEG abnormality ORPHA:531
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Macrotia, Postnatal growth retardation, Wide nasal bridge, Decreased body weight, Hea... OMIM:300749
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Hypoplastic helices, Recurrent upper respiratory tract inf... ORPHA:391372
Immunodeficiency-Centromeric Instability-Facial An