RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Malformed Nails
Accession: DOID:9000648
browse the term
Definition: Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.
Synonyms: exact_synonym: Abnormal Nail; Malformed Nail; Nail Abnormalities; Nail Abnormality; abnormal nails; pachyonychia
primary_id: MESH:D009264
alt_id: RDO:0001286
For additional species annotation, visit the
Alliance of Genome Resources .
G
Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
OMIM ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:17041931 PMID:17431922 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:25741868 PMID:27469932 PMID:28492532 More...
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
G
Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
ClinVar Annotator: match by term: DDOD SYNDROME | ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM ClinVar
PMID:24913193 PMID:25741868 PMID:28396750
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
G
Smarcad1
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1`
ISO
ClinVar Annotator: match by term: Basan syndrome
OMIM ClinVar
PMID:20619487 PMID:21820097 PMID:24664640 PMID:25741868 PMID:26932190
NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
G
Sash1
SAM and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
OMIM ClinVar
PMID:25315659 PMID:25741868
NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
G
Ripk4
receptor-interacting serine-threonine kinase 4
ISO
ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome
ClinVar
PMID:23610050 PMID:25326635 PMID:25741868 PMID:26129644 PMID:28940926
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
G
Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Deafness onychodystrophy osteodystrophy and mental retardation syndrome
OMIM ClinVar
PMID:22211675 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24824130 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:28292732 PMID:28428906 PMID:28492532 PMID:29100083 PMID:30335140 PMID:31257402 More...
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
G
Gatad1
GATA zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
ClinVar
PMID:9398847 PMID:12402331 PMID:16086329 PMID:16088892 PMID:16141001 PMID:19105186 PMID:21031596 PMID:25525159 PMID:25741868 PMID:26387595 PMID:26467025 PMID:27302843 PMID:28492532 PMID:30733538 PMID:31374812 PMID:31831025 More...
NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
G
Pex1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
OMIM ClinVar
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:19105186 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27302843 PMID:27872819 PMID:27882258 PMID:28454995 PMID:28468868 PMID:28492532 PMID:30362618 PMID:30733538 PMID:31374812 PMID:31831025 More...
NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
G
Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar
PMID:28492532
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
G
Pex6
peroxisomal biogenesis factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
G
Slc25a16
solute carrier family 25 member 16
ISO
ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital
ClinVar
PMID:28504827
NCBI chr20:25,661,158...25,717,558
Ensembl chr20:25,662,055...25,716,319
G
Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1
OMIM ClinVar
PMID:21665003 PMID:22211385 PMID:23374899 PMID:25741868 PMID:26036949
NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
G
Plcd1
phospholipase C, delta 1
ISO
ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3
OMIM ClinVar
PMID:25741868
NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
G
Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Anonychia
ClinVar
PMID:8755915 PMID:9881948 PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16965329 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 More...
NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
G
Krt17
keratin 17
ISO
ClinVar Annotator: match by term: Anonychia
ClinVar
PMID:25741868
NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
G
Rspo4
R-spondin 4
ISO
ClinVar Annotator: match by term: Anonychia
OMIM ClinVar
PMID:4702713 PMID:17041604 PMID:17186469 PMID:17914448 PMID:18070203
NCBI chr 3:140,357,256...140,391,780
Ensembl chr 3:140,357,424...140,388,254
G
Sox9
SRY-box transcription factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19639023
NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
G
Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8
OMIM ClinVar
PMID:7577595 PMID:8755915 PMID:9856844 PMID:10408773 PMID:10469344 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12735646 PMID:12787275 PMID:15888141 PMID:16965329 PMID:16971478 PMID:17434045 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
G
Pigf
phosphatidylinositol glycan anchor biosynthesis, class F
ISO
ClinVar Annotator: match by term: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
ClinVar OMIM
PMID:33386993
NCBI chr 6:7,589,528...7,617,721
Ensembl chr 6:7,589,570...7,639,675
G
Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: SETBP1-Related Disorder | ClinVar Annotator: match by term: Schinzel-Giedion syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 PMID:23222956 PMID:23832012 PMID:24033266 PMID:25028416 PMID:25217958 PMID:25663181 PMID:25741868 PMID:25852444 PMID:26467025 PMID:28346496 PMID:28492532 PMID:31680123 PMID:34782754 More...
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
G
Poc1a
POC1 centriolar protein A
ISO
ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
OMIM ClinVar
PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 PMID:25741868 PMID:28492532 More...
NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
G
Kcnh1
potassium voltage-gated channel subfamily H member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Temple-Baraitser syndrome
CTD ClinVar OMIM
PMID:18203178 PMID:20683999 PMID:23020937 PMID:24357613 PMID:25420144 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:28492532 PMID:28628100 PMID:32581362 PMID:32860008 More...
NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
G
Msx1
msh homeobox 1
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
OMIM ClinVar
PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 PMID:23991204 PMID:25741868 PMID:27917906 PMID:28166811 PMID:28492532 More...
NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18030
Pathological Conditions, Signs and Symptoms
11166
Anatomical Pathological Conditions
2142
Malformed Nails
22
ADULT syndrome
1
Alopecia Universalis, Onychodystrophy, Vitiligo
0
Ameloonychohypohidrotic Syndrome
0
Anonychia Onychodystrophy
0
Anonychia with Flexural Pigmentation
0
Anonychia-Ectrodactyly
0
BASAN syndrome
1
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
0
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
1
Cartwright Nelson Fryns Syndrome
0
Curly Hair-Acral Keratoderma-Caries Syndrome
0
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
1
DOORS syndrome
1
Dermoodontodysplasia
0
Double Nail for Fifth Toe
0
Gorlin Bushkell Jensen Syndrome
0
Heimler syndrome 1
4
Hereditary Koilonychia
0
Hypospadias-Mental Retardation Syndrome
0
Kumar Levick Syndrome
0
Mammary-Digital-Nail Syndrome
0
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
1
Oculotrichodysplasia
0
Onychotrichodysplasia and Neutropenia
0
Otoonychoperoneal Syndrome
0
Pili Torti Onychodysplasia
0
Pinheiro Freire-Maia Miranda Syndrome
0
Santos Syndrome
0
Schinzel-Giedion Syndrome
1
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
1
Steatocystoma Multiplex with Natal Teeth
0
Teebi Kaurah Syndrome
0
Temple-Baraitser syndrome
1
Tonoki Syndrome
0
Total Anonychia with Microcephaly
0
Ulnar Hypoplasia with Mental Retardation
0
Zori Stalker Williams Syndrome
0
autosomal dominant congenital deafness with onychodystrophy
1
nonsyndromic congenital nail disorder +
7
tooth and nail syndrome
1
yellow nail syndrome +
0
Path 2
disease
18030
disease of anatomical entity
17410
nervous system disease
13079
sensory system disease
6469
skin disease
3754
nail disease
100
Malformed Nails
22
ADULT syndrome
1
Alopecia Universalis, Onychodystrophy, Vitiligo
0
Ameloonychohypohidrotic Syndrome
0
Anonychia Onychodystrophy
0
Anonychia with Flexural Pigmentation
0
Anonychia-Ectrodactyly
0
BASAN syndrome
1
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
0
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
1
Cartwright Nelson Fryns Syndrome
0
Curly Hair-Acral Keratoderma-Caries Syndrome
0
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
1
DOORS syndrome
1
Dermoodontodysplasia
0
Double Nail for Fifth Toe
0
Gorlin Bushkell Jensen Syndrome
0
Heimler syndrome 1
4
Hereditary Koilonychia
0
Hypospadias-Mental Retardation Syndrome
0
Kumar Levick Syndrome
0
Mammary-Digital-Nail Syndrome
0
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
1
Oculotrichodysplasia
0
Onychotrichodysplasia and Neutropenia
0
Otoonychoperoneal Syndrome
0
Pili Torti Onychodysplasia
0
Pinheiro Freire-Maia Miranda Syndrome
0
Santos Syndrome
0
Schinzel-Giedion Syndrome
1
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
1
Steatocystoma Multiplex with Natal Teeth
0
Teebi Kaurah Syndrome
0
Temple-Baraitser syndrome
1
Tonoki Syndrome
0
Total Anonychia with Microcephaly
0
Ulnar Hypoplasia with Mental Retardation
0
Zori Stalker Williams Syndrome
0
autosomal dominant congenital deafness with onychodystrophy
1
nonsyndromic congenital nail disorder +
7
tooth and nail syndrome
1
yellow nail syndrome +
0