Gene Summary

grainyhead like transcription factor 3
ct,  Som,  Get1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 calcium level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 1.60×10-05
decreased blood urea nitrogen level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.92×10-06
preweaning lethality, complete penetrance Grhl3tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased startle reflex Grhl3tm1a(EUCOMM)Wtsi HET   Early adult 4.48×10-06
abnormal eye morphology Grhl3tm1a(EUCOMM)Wtsi HET Early adult 1.22×10-05
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
decreased circulating alkaline phosphatase level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.28×10-10
abnormal retina morphology Grhl3tm1a(EUCOMM)Wtsi HET Early adult 3.66×10-05
increased circulating amylase level Grhl3tm1a(EUCOMM)Wtsi HET Early adult 4.58×10-05
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis, Epidermal acanthosis OMIM:617115
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Ichthyosis Hystrix, Curth-Macklin Type
Palmoplantar keratoderma, Hyperkeratotic papule, Scaling skin OMIM:146590
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Orthokeratotic hyperkeratosis, Hyperkeratosis, Erythema OMIM:617571
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Psoriasis 2
Hyperkeratosis, Parakeratosis, Scaling skin, Epidermal acanthosis OMIM:602723
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Epidermolytic Hyperkeratosis 1
Scaling skin, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:113800
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Peeling Skin Syndrome 4
Scaling skin, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Erythema OMIM:620148
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Nonepider... ORPHA:530838
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Peeling Skin Syndrome 3
White scaling skin, Erythema OMIM:616265
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin OMIM:105250
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Peeling Skin Syndrome 6
Scaling skin, Parakeratosis, Orthokeratosis, Dry skin OMIM:618084
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Ichthyosis With Erythrokeratoderma
Scaling skin, Parakeratosis, Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Hyperkera... OMIM:620507
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Erythema, Diffuse palmoplantar hyperkeratosis ORPHA:2337
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia ORPHA:94090
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Anencephaly 2
Anencephaly OMIM:619452
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Dry skin, Palmoplantar keratod... OMIM:612281
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Epidermal acanthosis, Generalized hyperkeratosis, Dry skin, Cutis laxa ORPHA:2269
Anencephaly ORPHA:1681
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Schisis Association
Microcephaly, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Hyperparakeratosis, Palmoplantar hyperkeratosis, Orthokeratosis, Erythema OMIM:607602
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Lack of skin elasticity, Erythema ORPHA:281127
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Agenesis of corpus callosum OMIM:614120
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Caudal Duplication
Bifid sacrum, Vertebral segmentation defect, Myelomeningocele, Spina bifida, Spinal cord lesion, ... ORPHA:1756
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, White scaling skin, Palmoplantar keratoderma, Orthokeratosis OMIM:604777
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia, Recurrent hypoglycemia ORPHA:94086
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Parakeratosis, Scaling skin, Epidermal acanthosis ORPHA:90368
Nevus Comedonicus Syndrome
Scoliosis, Abnormal vertebral morphology, Spina bifida occulta, Spina bifida ORPHA:64754
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin on fingertip, Honeycomb palmopl... ORPHA:79395
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-... OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly OMIM:601355
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Epidermal acanthosis, Hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosi... OMIM:616295
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Scoliosis, Spina bifida, Sh... ORPHA:2345
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum... ORPHA:1908
Dental Anomalies And Short Stature
Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicular distance, Platyspondyl... OMIM:601216
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Holoprosencephaly, Aplasia/Hypoplasia o... ORPHA:2570
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Orthokeratosis, Erythema, Epidermal acanthosis OMIM:613943
Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Pachygyria, Cerebellar hypoplasia, Hy... OMIM:605013
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Scaling skin, Hyperkeratosis ORPHA:166113
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Meckel Syndrome, Type 2
Dandy-Walker malformation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Distal Deletion 13Q
Anencephaly, Encephalocele, Microcephaly, Holoprosencephaly, Aplasia/Hypoplasia of the corpus cal... ORPHA:1590
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Falls OMIM:615883
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema ORPHA:90158
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Elastosis Perforans Serpiginosa
Cutis laxa, Hyperkeratotic papule, Epidermal acanthosis ORPHA:79148
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Erythema OMIM:617525
Atrophoderma Vermiculata
Abnormal epidermal morphology, Hyperkeratotic papule, Erythema, Follicular hyperkeratosis ORPHA:79100
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Hyperkeratosis, Bleeding with minor or no trauma, Diffuse palmoplantar... ORPHA:79503
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Hyperkeratotic papule ORPHA:79147
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia ORPHA:36913
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida OMIM:207950
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Agenesis... OMIM:225790
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis OMIM:148600
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Bathing Suit Ichthyosis
Scaling skin, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis ORPHA:100976
Ulerythema Ophryogenesis
Contact dermatitis, Miscarriage, Sparse lateral eyebrow, Acne, Hyperkeratotic papule, Follicular ... ORPHA:3406
Hyperkeratosis ORPHA:1659
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Limb ataxia, Increased circulating ferritin concentration, Akinesia, Decreased circulating cerulo... ORPHA:48818
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Mal De Meleda
Nonepidermolytic palmoplantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Ery... ORPHA:87503
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar hyper... OMIM:300918
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Epidermal acanthosis OMIM:101900
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Epidermal acanthosis, Generalized hyperkeratosis OMIM:133200
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Hyperkeratosis, Dry skin, Erythema OMIM:614457
Sprengel Deformity
Cleft palate ORPHA:3181
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hy... ORPHA:2199
Genetic Recurrent Myoglobinuria
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase, Hand tremor OMIM:604484
Meckel Syndrome, Type 10
Occipital encephalocele, Dandy-Walker malformation, Anencephaly, Cerebellar hypoplasia OMIM:614175
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis OMIM:615735
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia ORPHA:94089
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Death in early adulthood, Death in adolescence, Sparse eyelashes, Spars... OMIM:605676
Parc Syndrome
Cleft palate OMIM:600331
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... OMIM:271530
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Acantholysis, Erythema ORPHA:2841
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Hydrocephalus OMIM:236660
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Stillbirth OMIM:265880
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Ménétrier Disease
Anorexia, Malnutrition, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Gia... ORPHA:2494
Iga Pemphigus
Eosinophilia, Pustule, Neutrophilic infiltration of the skin, Acantholysis, Cutaneous abscess, Ul... ORPHA:555905
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1104
Joubert Syndrome 15
Exencephaly OMIM:614464
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Parakeratosis, Psoriasiform lesion ORPHA:284426
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate OMIM:600251
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Retinal degeneratio... OMIM:239000
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Insulin resistance, Diabetes mellitus, Hypercholesterolemia OMIM:612526
Hydrocephalus, Absent septum pellucidum, Anencephaly, Agenesis of corpus callosum ORPHA:2189
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis, Hypercalcemia, Angioid streaks of the fundus OMIM:211900
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer ORPHA:312
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis OMIM:610227
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis OMIM:620415
Syringomyelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningo... ORPHA:63259
Ichthyosis With Confetti
Scaling skin, Palmoplantar hyperkeratosis OMIM:609165
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Hyperglycemia, Ataxia, Optic disc pallor OMIM:618970
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck OMIM:300718
Centrifugal Lipodystrophy
Scaling skin, Erythema ORPHA:90156
Non-Functioning Paraganglioma
Hypertensive retinopathy, Tremor, Hypercalcemia ORPHA:94080
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Abd... ORPHA:2070
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Intervertebral s... OMIM:271630
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Cerebellar hypoplasia, Hypoplasia of the brainstem, Hydranencephaly OMIM:236500
Chilblain Lupus 1
Skin ulcer OMIM:610448
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Sacral dimple, Spina bifida, Abnormal form of the vertebral bodies ORPHA:1327
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Hyperphosphatemia OMIM:127000
Darier-White Disease
Acantholysis, Enlargement of parotid gland, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Fountain Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Spina bifida ORPHA:3219
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Palmoplantar keratoderma, Dry skin, Scaling skin OMIM:618373
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Palmop... OMIM:620150
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis, Edema ORPHA:455
Pemphigus Foliaceus
Scaling skin, Skin vesicle, Acantholysis, Erythema ORPHA:79481
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Erythroderma, Eosinophilic infiltration of the esophagus, Pulmonic stenosis, Malabsorption, Palmo... OMIM:615508
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral compression fracture, Scoliosis, Central vertebral hypoplasia, Vertebral hypoplasia, Na... OMIM:602557
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression, Aggressive b... OMIM:247100
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, D... OMIM:601214
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Cerebral calcification, Porencephalic cyst, Myelomeningocele, Spina... ORPHA:1393
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Abnormal vertebral morphology, Vertebral compression fracture, Scolios... ORPHA:93352
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger ... OMIM:148700
Intellectual Developmental Disorder, Autosomal Dominant 72
Short neck, Spina bifida OMIM:620439
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608636
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Narrow vertebral interpedicular distance, Irregular vertebral endplates, Platyspondyly... OMIM:618395
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Spina bifida occulta OMIM:184400
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Peeling Skin Syndrome 1
Scaling skin OMIM:270300
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Hyperkeratosis, Dry skin OMIM:609180
Hyperphosphatemia ORPHA:280062
Waardenburg Syndrome Type 1
Aganglionic megacolon, Telecanthus, Meningocele, Synophrys, Spina bifida, Ptosis, Cleft palate, T... ORPHA:894
Masa Syndrome
Hydrocephalus, Hyperlordosis, Kyphosis OMIM:303350
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Horner syndrome OMIM:106070
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Autosomal Dominant Hypocalcemia
Optic atrophy, Writer's cramp, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Sirenomelia, Spina bifida ORPHA:3169
Gastrointestinal hemorrhage, Abnormality of the orbital region, Colorectal polyposis, Multiple in... ORPHA:251992
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Isolated Hemihyperplasia
Scoliosis, Myelomeningocele ORPHA:2128
Neuroleptic Malignant Syndrome
Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Tremor, Elevated circulating creati... ORPHA:94093
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Spinal rigidity, Kyphosis OMIM:618323
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... OMIM:618858
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Abnormal gastric mucosa morpho... ORPHA:263665
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Hydromyelia, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Type... OMIM:615287
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinop... OMIM:520000
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Ichthyosis, Hystrix-Like, With Deafness
Hyperkeratosis, Absent eyelashes, Erythroderma, Cobblestone-like hyperkeratosis, Sparse eyelashes... OMIM:602540
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Acute Radiation Syndrome
Scaling skin, Hyperkeratosis, Skin ulcer ORPHA:454831
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Cutaneous Mastocytoma
Scaling skin, Erythema ORPHA:79455
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level OMIM:618856
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis, Feeding difficulties in infancy, Feeding dif... ORPHA:704
Lethal Acantholytic Erosive Disorder
Absent eyelashes, Cardiomyopathy, Hypovolemic shock, Absent eyebrow, Cleft palate, Impaired myoca... ORPHA:158687
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema, Epidermal acanthosis ORPHA:83453
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615022
Hypercalcemia ORPHA:436
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Death in childhood, Feeding difficulties OMIM:620368
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Classic Mycosis Fungoides
Hyperkeratosis, Skin ulcer, Dry skin, Erythema ORPHA:2584
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Chilblain Lupus
Malar rash, Hyperkeratosis, Discoid lupus rash, Skin rash, Inflammatory abnormality of the skin, ... ORPHA:90280
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Polyhydramnios, Death in childhood, Intestinal atresia, Bl... OMIM:243150
Acute Generalized Exanthematous Pustulosis
Facial edema, Purpura, Predominantly dermal neutrophilic infiltrate, Pustule, Conjunctivitis, Eos... ORPHA:293173
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Auriculocondylar Syndrome 4
Narrow mouth, Cleft palate, Glossoptosis OMIM:620457
Lichen Planopilaris
Hyperkeratosis, Abnormal intestine morphology, Pruritus, Pterygium ORPHA:525
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macular dystrophy, Hypercalcemia, Abnormal retinal morphology on m... ORPHA:251004
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Abnormal in... ORPHA:85446
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Spinal rigidity, Hyperlordosis, Kyphosis OMIM:617404
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anal fissure, Abdominal pain, Bloody diarrhea, Episodic a... ORPHA:209964
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Thoracolumbar scoliosis ORPHA:2437
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Gait imbalance, Falls, Freezing of gait, Blepharospasm, Unsteady gait, Loss of ambulati... ORPHA:240094
Winchester Syndrome
Kyphosis OMIM:277950
Acropectorovertebral Dysplasia
Spina bifida occulta at S1, Abnormal vertebral morphology, Spina bifida occulta at L5 OMIM:102510
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... OMIM:606176
Torticollis, Blepharospasm, Aceruloplasminemia, Diabetes mellitus, Ataxia, Decreased circulating ... OMIM:604290
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Isolated Polycystic Liver Disease
Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Feedi... ORPHA:2924
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption, Pruritus ORPHA:79301
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Anencephaly, Hydrocephalus, Polymicrogyria, Cerebellar vermis ... OMIM:616546
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Hyperkeratosis, Palmoplantar hyperk... OMIM:619208
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Hypercalcemia OMIM:171420
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth OMIM:217150
Cole Disease
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkerato... OMIM:615522
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericar... OMIM:602248
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1120
Adducted Thumbs Syndrome
Velopharyngeal insufficiency, High, narrow palate, Cleft palate, High palate OMIM:201550
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis ORPHA:38
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Entropion, Abdominal pain, Intestinal perforation, Tracheoesophageal... ORPHA:537
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Entropion, Diarrhea, Abdominal pain, Acute hepatic failure, Dysphagi... ORPHA:36426
Schneckenbecken Dysplasia
Narrow vertebral interpedicular distance, Ovoid vertebral bodies, Umbilical hernia, Platyspondyly... OMIM:269250
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, G... ORPHA:1876
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, Erythroderma OMIM:615024
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Warty Dyskeratoma
Neoplasm of the tongue, Acantholysis, Abnormal bleeding ORPHA:69745
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum OMIM:619148
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Anterior sacral meningocele, Meningocele, Hydrocephalus, Dermal sinus ... OMIM:600145
Reynolds Syndrome
Keratoconjunctivitis sicca, Gastroesophageal reflux, Xerostomia, Skin rash, Ascites, Abnormal gas... ORPHA:779
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death OMIM:609638
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Abdominal pain, Skin rash, Diarrhea, Gingival bleeding, A... ORPHA:99828
Isolated Dandy-Walker Malformation
Cleft palate, Encephalocele ORPHA:217
Peptic ulcer, Gastrointestinal hemorrhage, Seborrheic dermatitis, Eczematoid dermatitis, Ptosis, ... ORPHA:2796
Parietal Foramina 1
Cleft upper lip, Cleft palate, Encephalocele OMIM:168500
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Chronic diarrhea, Skin rash, Abdominal pain, Vomiting, Erysipelas, C... OMIM:142680
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Retinal calcification, Papilledema, Hypocalcemic tetany, Hyperphosphatemia ORPHA:93325
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngea... ORPHA:79444
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Purpura, Gingival bleeding, Menorrhagia, Epistaxi... OMIM:231200
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Vertebral segmentation defect OMIM:608681
Linear Verrucous Nevus Syndrome
Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia ORPHA:2611
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Waddling gait, Hypophosphatemia OMIM:156400
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Hydrocephalus, Sc... ORPHA:2635
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Neonatal death, Kyphosis OMIM:618237
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... OMIM:273800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Scoliosis, Paucity of anterior horn motor neurons, Kyphos... OMIM:611890
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Protein-losing enteropathy, Diarrhea, Dehydration, Hematochezia, Edema ORPHA:103910
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Psoriasiform lesion ORPHA:163525
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Telecanthus, Highly arched eyebrow, Hydrocephalus, High palate, Synophrys, S... OMIM:613776
Osteogenesis Imperfecta
Syringomyelia, Vertebral compression fracture, Abnormal form of the vertebral bodies, Enlarged ve... ORPHA:666
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Abnormal sacrum morphology, Vertebral segmentation defect ORPHA:1926
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Brachyolmia Type 3
Scoliosis, Kyphosis, Platyspondyly, Short neck, Spinal cord compression OMIM:113500
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Akinesia, Truncal ataxia, Hyperalaninemia, Optic neuropathy, Choreoathetosis, Opti... OMIM:618249
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Short neck, Scoliosis, Spina bifida OMIM:616038
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Melena, Muscle hemorrhage, Abnormal gastrointestinal tr... ORPHA:464321
Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom... ORPHA:217067
Acrokeratosis Verruciformis Of Hopf
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Epidermal acanthosis ORPHA:79151
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Fetal Akinesia Deformation Sequence 4
Short neck, Neonatal death, Kyphosis OMIM:618393
Lichen Planus Pemphigoides
Blepharitis, Hyperkeratosis, Pruritus, Conjunctivitis ORPHA:254478
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:616756
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, T... ORPHA:199299
Spinal Cord Injury
Allodynia, Hypercalcemia ORPHA:90058
Hypokalemia, Gait disturbance, Retinopathy, Hypophosphatemia, Type I diabetes mellitus ORPHA:213
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... ORPHA:2869
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperph... ORPHA:79443
Trisomy 20P
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina ... ORPHA:261318
Cleft Soft Palate
Cleft soft palate OMIM:119570
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Gastrointestinal hemorrhage, Spina bifida occulta, Arrhythmia ORPHA:230839
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Hyperkeratosis, Dysphagia, Epidermal acanthosis OMIM:616029
Vacterl/Vater Association
Occipital encephalocele, Anencephaly ORPHA:887
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Dystonia, Short stepped... ORPHA:391411
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema, Pedal edema OMIM:615907
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow vertebral interpedicular distance, Short neck, Scoliosis OMIM:620073
Alagille Syndrome
Vertebral segmentation defect, Spina bifida occulta, Butterfly vertebral arch, Abnormal form of t... ORPHA:52
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Tremor, Hypercalcemia ORPHA:276621
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Butterfly vertebrae, Spinal dysraphism, Tethered cord, Absence of the sacrum OMIM:617660
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma, Excessive... OMIM:618462
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Skin ulcer ORPHA:231
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Scoliosis, Kyphosis, Umbilical hernia ORPHA:2181
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Skin rash, Cardiac arrest, Constipation, E... ORPHA:99745
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Subarachnoid hemorrhage, Malabsorption OMIM:277175
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Irregular vertebral endplates, Platyspondyly, Intrauterine growth retardation OMIM:234250
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Hyperlipidemia, Gingival bleeding, Prolo... ORPHA:35909
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip vermilion, Cleft lip OMIM:616898
Vacterl With Hydrocephalus
Aqueductal stenosis, Abnormal form of the vertebral bodies, Hydrocephalus, Hemivertebrae, Spina b... ORPHA:3412
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Acute Adrenal Insufficiency
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Decreased circulati... ORPHA:95409
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Retinopathy... ORPHA:552
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Trisomy 18
Anencephaly, Spina bifida, Microcephaly, Holoprosencephaly, Aplasia/Hypoplasia of the corpus call... ORPHA:3380
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Hypophosphate... ORPHA:2088
Lymphatic Malformation 12
Polyhydramnios, Hyperkeratosis, Lymphedema, Death in adolescence, Neonatal death, Nonimmune hydro... OMIM:620014
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis OMIM:301900
Myhre Syndrome
Platyspondyly, Short neck, Vertebral fusion, Enlarged vertebral pedicles OMIM:139210
Parkinson Disease 17
Resting tremor, Akinesia, Tremor OMIM:614203
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Bruxism, Motor stereotypy, Aggressive behavior OMIM:619150
Severe Hemophilia A
Persistent bleeding after trauma, Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrha... ORPHA:169802
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hyperkeratosis ORPHA:281090
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology ORPHA:171851
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Periventricular leukomalacia, Thin corpus callosum, Hydranencephaly, Hydrocephalus, Polymicrogyri... OMIM:620371
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia OMIM:101800
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hermansky-Pudlak Syndrome
Anorexia, Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, Hyperkeratosis, Cardiom... ORPHA:79430
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Diarrhea, Port... ORPHA:79319
Sandhoff Disease
Kyphosis ORPHA:796
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal hemorrhage... ORPHA:44890
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Gingi... ORPHA:169805
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Waddling gait, Hypophosphatemia, Increased circulating beta-C-terminal ... ORPHA:157215
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia, Steatorrhea OMIM:605911
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomenin... ORPHA:2369
Fibrous Dysplasia Of Bone
Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait, Diabetes mellitus, Increased ...