Gene Summary

Name:
grainyhead like transcription factor 3
Synonyms:
ct,  Som,  Get1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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 startle reflex Grhl3tm1a(EUCOMM)Wtsi HET   Early adult 4.48×10-06
increased circulating calcium level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 1.60×10-05
abnormal locomotor activation Grhl3tm1a(EUCOMM)Wtsi HET Early adult 9.77×10-06
increased circulating glucose level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 2.76×10-07
increased circulating amylase level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 4.58×10-05
abnormal retina morphology Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.66×10-05
decreased blood urea nitrogen level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.92×10-06
increased circulating phosphate level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.67×10-07
decreased circulating triglyceride level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 7.71×10-06
abnormal eye morphology Grhl3tm1a(EUCOMM)Wtsi HET Early adult 1.22×10-05
decreased circulating alkaline phosphatase level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.28×10-10

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Grhl3 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.

The table below shows human diseases associated to Grhl3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Grhl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Erythema, Scaling skin, Orthokeratotic hyperkeratosis OMIM:617571
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Psoriasis 2
Hyperkeratosis, Epidermal acanthosis, Scaling skin, Parakeratosis OMIM:602723
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Cole Disease
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615522
Epidermolytic Hyperkeratosis
Epidermal acanthosis, Palmoplantar hyperkeratosis, Scaling skin OMIM:113800
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythema OMIM:617526
Peeling Skin Syndrome 4
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkeratosis, Scaling skin OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythema OMIM:617525
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Palmoplantar scaling skin, Nonepidermolytic palmop... ORPHA:530838
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Acrokeratosis Verruciformis
Hyperkeratosis, Epidermal acanthosis OMIM:101900
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis, Orthokeratotic hyperkeratosis OMIM:615598
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... OMIM:218670
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Scaling skin OMIM:616295
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Palmoplantar keratoderma, Gastrointestinal hemorrhage, Ascites, G... ORPHA:2198
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema ORPHA:2337
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94090
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Verrucous Hemangioma
Epidermal acanthosis, Hyperkeratotic papule ORPHA:464318
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Ichthyosis, Congenital, Autosomal Recessive 6
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hyperkeratosis, Sc... OMIM:612281
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Generalized hyperkeratosis, Cutis laxa, Scaling skin, Dry skin ORPHA:2269
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Diprosopus
Anencephaly ORPHA:1681
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Anencephaly 2
Anencephaly OMIM:619452
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Epidermal acanthosis, Scaling skin, Parakeratosis ORPHA:90368
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Hydrolethalus Syndrome 2
Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Schisis Association
Microcephaly, Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Palmoplantar hyper... ORPHA:79395
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Spastic tetraplegia, Erythema, Hyperkeratosis, Scaling skin, Dry skin, Hypertonia OMIM:614457
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar hyperkeratosis, Scaling skin OMIM:604536
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida, Abnormal vertebral morphology, Scoliosis ORPHA:64754
Caudal Duplication
Abnormal sacrum morphology, Myelomeningocele, Spina bifida, Bifid sacrum, Vertebral segmentation ... ORPHA:1756
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Dandy-Walker m... OMIM:225790
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Aicardi-Goutieres Syndrome 5
Spasticity, Scaling skin, Dry skin OMIM:612952
Congenital Disorder Of Glycosylation, Type If
Ataxia, Hyperkeratosis, Scaling skin, Dry skin, Hypertonia OMIM:609180
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Parastremmatic Dwarfism
Short neck, Kyphosis, Scoliosis OMIM:168400
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly OMIM:601355
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Dandy-W... OMIM:615287
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Microcephaly, Dandy-Walker malformation, Agenesis of cerebellar vermi... OMIM:611134
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Meckel Syndrome, Type 2
Dandy-Walker malformation, Anencephaly, Meningocele, Encephalocele OMIM:603194
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Bazex Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Parakeratosis ORPHA:166113
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly OMIM:614175
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Spastic paraplegia, Acral ulceration, Spasticity, Clonus, Skin ul... ORPHA:139578
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Papilledema OMIM:240150
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Epidermal acanthosis, Erythema, Orthokeratosis OMIM:613943
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Peeling Skin Syndrome 1
Erythema, Scaling skin OMIM:270300
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin ORPHA:90158
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Cutis laxa, Hyperkeratotic papule ORPHA:79148
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Holoprosencephaly, Encephal... ORPHA:1590
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Atrophoderma Vermiculata
Follicular hyperkeratosis, Erythema, Abnormal epidermal morphology, Hyperkeratotic papule ORPHA:79100
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Spinal dysraphism, Microcephaly, Hydrocep... ORPHA:1908
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Hyperkeratotic papule ORPHA:79147
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Hypoplasia of ... OMIM:605013
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Bleeding with min... ORPHA:79503
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:36913
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Bathing Suit Ichthyosis
Epidermal acanthosis, Palmoplantar hyperkeratosis, Scaling skin, Parakeratosis ORPHA:100976
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Mal De Meleda
Nonepidermolytic palmoplantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Ery... ORPHA:87503
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Oculotrichodysplasia
Scaling skin, Dry skin OMIM:257960
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Olmsted Syndrome, X-Linked
Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, Hyper... OMIM:300918
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Intervertebral space narrowing, Back pain, Scoliosis, Squared-off platyspon... OMIM:271530
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar... ORPHA:2199
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Hydrocephalus OMIM:236660
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Dystonia, Decreased serum iro... ORPHA:48818
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Thoracic kyphosis, Intervertebral space narrowing, Platyspondyly, Lumbar hyperlordosis, Scoliosis... OMIM:609223
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking ORPHA:99845
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Non-midline cleft palate, Non-midline cleft lip ORPHA:1991
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Spina bifida, Hydrocephalus, Cervical myelopathy OMIM:207950
Pyknoachondrogenesis
Stillbirth OMIM:265880
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Parc Syndrome
Cleft palate OMIM:600331
Brachyolmia Type 2
Platyspondyly OMIM:613678
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Schmorl's node, Beaking of vertebral bodies, Platyspondyly OMIM:604864
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Brachyolmia, Maroteaux Type
Scoliosis, Abnormal form of the vertebral bodies, Platyspondyly ORPHA:93302
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Scaling skin, Parakeratosis ORPHA:284426
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Ménétrier Disease
Nausea, Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter pylori infection,... ORPHA:2494
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Short neck, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele ORPHA:1759
Pemphigus Vulgaris
Feeding difficulties in infancy, Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Retinal degeneration, Hyperuricemia, Hydroxyprolinemia, Hyperphosphate... OMIM:239000
Hydrolethalus
Agenesis of corpus callosum, Anencephaly, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly ORPHA:2189
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis OMIM:610227
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Pruritus, Cutaneous abscess, Acantholysis, P... ORPHA:555905
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor ORPHA:98807
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Chilblain Lupus 1
Skin ulcer OMIM:610448
Centrifugal Lipodystrophy
Erythema, Scaling skin ORPHA:90156
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Eosinophilic Gastroenteritis
Hematochezia, Eosinophilia, Abnormality of the gastrointestinal tract, Ascites, Vomiting, Abdomin... ORPHA:2070
Parietal Foramina 1
Cleft upper lip, Cleft palate, Encephalocele OMIM:168500
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly OMIM:616583
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Wildervanck Syndrome
Meningocele ORPHA:3456
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Skin ulcer, Palmoplantar keratoderma ORPHA:312
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Cerebellar hypoplasia, Hydranencephaly, Hypoplasia of the brainstem OMIM:236500
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Platyspondyly, Irregular vertebral endplates, Kyphoscoliosis, Lumbar scoliosis OMIM:612847
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina b... OMIM:613686
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Angioid streaks of the fundus, Calcinosis, Hyperphosphatemia OMIM:211900
Skin Fragility-Woolly Hair Syndrome
Palmoplantar hyperkeratosis, Sparse eyebrow, Acantholysis, Sparse eyelashes OMIM:607655
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1104
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Iniencephaly
Myelomeningocele, Syringomyelia, Anencephaly, Spinal dysraphism, Dandy-Walker malformation, Spina... ORPHA:63259
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Pulmonic steno... OMIM:615508
Humero-Radial Synostosis
Meningocele ORPHA:3265
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each finger onto ... OMIM:148700
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Darier-White Disease
Subungual hyperkeratotic fragments, Enlargement of parotid gland, Acantholysis, Pruritus OMIM:124200
Non-Functioning Paraganglioma
Hypertensive retinopathy, Hypercalcemia, Tremor ORPHA:94080
Pemphigus Foliaceus
Erythema, Scaling skin, Skin vesicle, Acantholysis ORPHA:79481
Morquio Syndrome C
Platyspondyly OMIM:252300
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Ataxia, Retinal thinning OMIM:618970
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Masa Syndrome
Hyperlordosis, Kyphosis, Hydrocephalus OMIM:303350
Gluteal Muscles, Absence Of
Spina bifida occulta, Scoliosis OMIM:231970
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Cervical spina bifida, Growth delay OMIM:600122
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Pruritus, Abnormal bleeding, Gastrointestinal hemorrhage ORPHA:79301
Second Metatarsal-Metacarpal Syndrome
Platyspondyly OMIM:269630
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis, Edema ORPHA:455
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Muscle-Eye-Brain Disease
Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Transient hypophosphatemia, Hypocalcemia, Papilledema, Hyperphosphatemia OMIM:127000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Ganglioneuroma
Colorectal polyposis, Gastrointestinal hemorrhage, Multiple intestinal neurofibromatosis, Hamarto... ORPHA:251992
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Horner syndrome OMIM:106070
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:616029
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Constipation, Gastroesophageal reflux, Colonic div... ORPHA:263665
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Adult Polyglucosan Body Disease
Abnormal pyramidal sign, Ataxia, Spasticity, Hemiparesis, Skin ulcer, Abnormality of extrapyramid... ORPHA:206583
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Hydranencephaly, Porencephalic cyst, Microcephaly, Spin... ORPHA:1393
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating ... ORPHA:94093
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Vulvovaginal Gingival Syndrome
Epidermal acanthosis, Erythema, Parakeratosis ORPHA:83453
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Sacral dimple ORPHA:1327
Cutaneous Mastocytoma
Erythema, Scaling skin ORPHA:79455
Autosomal Dominant Hypocalcemia
Optic atrophy, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia, Writer's cramp ORPHA:428
Brachyolmia Type 1, Toledo Type
Short neck, Intervertebral space narrowing, Back pain, Irregular vertebral endplates, Kyphoscolio... OMIM:271630
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Platyspondyly ORPHA:163665
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Amish Lethal Microcephaly
Agenesis of corpus callosum, Microcephaly, Lissencephaly, Spina bifida, Cerebellar vermis hypoplasia ORPHA:99742
Fountain Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Spina bifida, Scoliosis, Spina bifida occulta ORPHA:3219
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615022
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Sprengel Deformity
Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae OMIM:184400
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macular dystrophy, Hypercalcemia, Abnormal retinal morphology on m... ORPHA:251004
Congenital Factor V Deficiency
Hematochezia, Bruising susceptibility, Persistent bleeding after trauma, Spontaneous hematomas, G... ORPHA:326
Hypophosphatasia
Hypercalcemia ORPHA:436
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Chilblain Lupus
Pruritis on hand, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflammatory abnormality of the... ORPHA:90280
Classic Mycosis Fungoides
Hyperkeratosis, Skin ulcer, Erythema, Dry skin ORPHA:2584
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies OMIM:613982
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Intestinal malrotation, Intestinal obstruction, D... OMIM:243150
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Parakeratosis OMIM:148500
Anauxetic Dysplasia 1
Cervical cord compression, Cervical subluxation, Short neck, Platyspondyly OMIM:607095
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Unsteady gait, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglyc... OMIM:520000
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis OMIM:604777
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Stercoral ulcer, Bloody mucoid diarrhea, Re... ORPHA:209964
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Platyspondyly OMIM:230650
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Impaired myocardial contractility, Absent eyelashes, Acantholysis, Absent eyeb... ORPHA:158687
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Waardenburg Syndrome Type 1
White eyebrow, Thick eyebrow, Aganglionic megacolon, Ptosis, White eyelashes, Spina bifida, Synop... ORPHA:894
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Tethered cord, Hydrocephalus, Hy... ORPHA:268810
Buerger Disease
Skin ulcer ORPHA:36258
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Macroglossia, Dysphagia, Abnor... ORPHA:85446
Winchester Syndrome
Kyphosis OMIM:277950
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta at S1, Hypoplasia of the odontoid process, Abnormal vertebral morphology, Sc... OMIM:601829
Olmsted Syndrome 2
Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, Hyper... OMIM:619208
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Blephar... OMIM:604290
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty wal... ORPHA:98764
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Paroxysmal ventricular tachycardia, Premature v... OMIM:601214
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Abnormal conjunctiva morphology, Pleural ... OMIM:602248
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Absent eyelashes, Sparse eyebrow, Hyperkeratosis, Erythroderma, Sparse ... OMIM:602540
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal ... ORPHA:2924
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Acropectorovertebral Dysplasia
Spina bifida occulta at S1, Abnormal vertebral morphology, Spina bifida occulta at L5 OMIM:102510
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Ptosis, Abdominal distention, Abnormal ... ORPHA:1876
Lichen Planopilaris
Hyperkeratosis, Pruritus, Pterygium, Abnormal intestine morphology ORPHA:525
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Hypercalcemia OMIM:171420
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Familial Hypofibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:98881
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Pachydermoperiostosis
Palmoplantar keratoderma, Gastrointestinal hemorrhage, Acne, Ptosis, Eczematoid dermatitis, Malab... ORPHA:2796
Attenuated Chédiak-Higashi Syndrome
Incoordination, Skin ulcer, Abnormality of extrapyramidal motor function, Hypertonia ORPHA:352723
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Pemphigus Erythematosus
Acantholysis, Malar rash ORPHA:79480
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic cervical vertebrae, Scoliosis, Hydro... ORPHA:2635
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule ORPHA:38
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Loss of ability to walk, Blepharospasm, Akinesia,... ORPHA:240094
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Reynolds Syndrome
Pruritus, Mucosal telangiectasiae, Gastroesophageal reflux, Telangiectasia of the skin, Keratocon... ORPHA:779
Toxic Epidermal Necrolysis
Intestinal perforation, Gastrointestinal hemorrhage, Tracheoesophageal fistula, Acantholysis, Sud... ORPHA:537
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis OMIM:615024
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Dengue Fever
Bruising susceptibility, Pruritus, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Hyp... ORPHA:99828
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Singleton-Merten Syndrome 2
Hyperkeratosis, Aortic valve stenosis OMIM:616298
Mpdu1-Cdg
Scaling skin, Hypertonia ORPHA:79323
Warty Dyskeratoma
Neoplasm of the tongue, Acantholysis, Abnormal bleeding ORPHA:69745
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cleft palate OMIM:120433
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... OMIM:606176
Netherton Syndrome
Hypereosinophilia, Angioedema, Parakeratosis, Sparse eyebrow, Erythroderma, Abnormal intestine mo... OMIM:256500
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acantholysis, Sudden cardiac death, Myocardial infarction, Acute hep... ORPHA:36426
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Neonatal death, Paucity of anterior horn motor neurons, Scoliosis, Abnormal... OMIM:611890
Epiphyseal Dysplasia, Multiple, 7
Vertebral wedging, Platyspondyly OMIM:617719
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Gastrointestinal hemorrhage, Vomiting, Maculopapular exanthema, Chronic diarrhea, Abd... OMIM:142680
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Isolated Dandy-Walker Malformation
Cleft palate, Encephalocele ORPHA:217
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79444
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Arrhinencephaly ORPHA:1788
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Linear Verrucous Nevus Syndrome
Retinopathy, Hypophosphatemia, Aplasia/Hypoplasia of the fovea ORPHA:2611
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... OMIM:173470
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Acantholysis OMIM:609638
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Poor coordination, Recurrent hand flapping OMIM:309548
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Protein-losing enteropathy, Dehydration, Edema, Diarrhea ORPHA:103910
Czeizel-Losonci Syndrome
Myelomeningocele, Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2437
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis OMIM:609165
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Prolonged bleedi... OMIM:231200
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Brachyolmia Type 3
Kyphosis, Short neck, Spinal cord compression, Platyspondyly, Scoliosis OMIM:113500
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Fraxe Intellectual Disability
Stereotypical body rocking, Clumsiness, Recurrent hand flapping ORPHA:100973
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Hypocalcemic seizures, Papilledema, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy, Subarachnoid hemorrhage, Diarrhea OMIM:277175
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Cleft lip OMIM:612370
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... OMIM:604367
Cap Polyposis
Colorectal polyposis, Hematochezia, Constipation, Abdominal pain, Abdominal distention, Diarrhea,... ORPHA:160148
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Spinal dysraphism, Absence of the sacrum, Tethered cord, Butterfly vertebrae OMIM:617660
Lichen Planus Pemphigoides
Hyperkeratosis, Blepharitis, Conjunctivitis, Pruritus ORPHA:254478
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Hermansky-Pudlak Syndrome
Bruising susceptibility, Gastrointestinal hemorrhage, Long eyelashes, Anorexia, Hyperkeratosis, A... ORPHA:79430
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Chromosome 13Q33-Q34 Deletion Syndrome
Agenesis of corpus callosum, Anencephaly, Microcephaly, Dandy-Walker malformation, Encephalocele OMIM:619148
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1120
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Pelvis-Shoulder Dysplasia
Abnormal form of the vertebral bodies, Prominent protruding coccyx, Hydranencephaly, Lumbar hyper... ORPHA:2839
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus ORPHA:1335
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Cystinosis
Retinopathy, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus ORPHA:213
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Tethered cord, Scoliosis OMIM:612918
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Hyperlipidemia, Gastrointestinal hemorrhage, Menorrhagia, Gin... ORPHA:35909
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly ORPHA:85174
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Hematochezia, Morphological abnormality of the gastrointestinal tract, Bl... ORPHA:464321
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia, Kyphosis, Scoliosis ORPHA:2181
Fanconi Renotubular Syndrome 2
Glycosuria, Hypophosphatemia OMIM:613388
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Hypertriglyceridemia, Postprandial hyperglyc... ORPHA:2088
Dracunculiasis
Skin ulcer ORPHA:231
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Follicular hyperkeratosis, Scaling skin, Dry skin OMIM:308205
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decre... ORPHA:95409
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Posterior scalloping of vertebral bodies, Spinal dysraphism, Scoliosis, Caudal interpedicular nar... OMIM:603546
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Intrauterine growth retardation, Platyspondyly, Scoliosis, Irregular vertebral endplates OMIM:234250
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Hyperuricemia, T... ORPHA:199299
Typhoid
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Constipation, Abdominal pain, Diarrhea, ... ORPHA:99745
Basan Syndrome
Epidermal acanthosis, Palmoplantar keratoderma OMIM:129200
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Abdominal pain, Malabsorption, Intestinal polyposis,... ORPHA:873
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Optic atrophy OMIM:101800
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Anencephaly, Polymicrogyria, Hydrocephalus OMIM:616546
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, Inability to walk, Akines... ORPHA:391411
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Hypercalcemia, Tremor ORPHA:276621
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Scoliosis, Kyphosis, Cervical spinal canal stenosis OMIM:301900
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly OMIM:618728
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Cleft palate, Non-midline cleft lip ORPHA:1484
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Scaling skin, Dry skin OMIM:618419
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Diabetic Embryopathy
Spinal dysraphism, Abnormal sacrum morphology, Vertebral segmentation defect, Hydrocephalus ORPHA:1926
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Epidermal acanthosis, Skin vesicle OMIM:613102
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Platyspondyly OMIM:313420
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79443
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... ORPHA:44890
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly OMIM:617974
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Anorexia, Hamartomatous polyposis, Abdominal pain, Mala... OMIM:175500
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Waddling gait,... ORPHA:157215
Vacterl With Hydrocephalus
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Absence of the sacrum, Sp... ORPHA:3412
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Short neck, Cervical subluxation, Hypoplasia of the odontoid process, Platyspondyly, Lumbar hyper... OMIM:184100
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hyperkeratosis ORPHA:281090
Autosomal Recessive Spondylocostal Dysostosis